[Mohr OL. A hereditary subletal syndrome in man. Nor Vidensk Akad Oslo I mat Naturv Klasse. 1941; 14: 3-18.]Search in Google Scholar
[Fenton OM, Watt-Smith SR. The spectrum of oralfacial-digital syndrome. Br J Plast Surg. 1985; 38(4): 532-539.10.1016/0007-1226(85)90016-5]Search in Google Scholar
[Toriello HV. Oral-facial-digital syndromes. Clin Dysmorphol. 1993; 2(2): 95-105.10.1097/00019605-199304000-00001]Search in Google Scholar
[Toriello HV. Are the oral-facial-digital syndromes ciliopathies? Am J Med Genet A. 2009; 149(5): 1089-1095.10.1002/ajmg.a.3279919396822]Search in Google Scholar
[Moran-Barroso V, Valdes Flores M, Garcia-Cavazos R, Kofman-Alfaro S, Saavedra-Ontiveros D. Oral-facial-digital (OFD) syndrome with associated features: a new syndrome or genetic heterogeneity and variability? Clin Dysmorphol. 1998; 7(1): 55-57.]Search in Google Scholar
[Gabrielli O, Ficcadenti A, Fabrizzi G, Perri P, Mercuri A, Coppa GV, Giorgi P. Child with oral, facial, digital and skeletal anomalies and psychomotor delay: a new OFDS form? Am J Med Genet. 1994; 53(3): 290-293.10.1002/ajmg.13205303157531942]Search in Google Scholar
[Degner D, Bleich S, Riegel A, Rüther E. [Orofacial-digital syndrome - a new variant? Psychiatric, neurologic and neuroradiological findings.] Fortschr Neurol Psychiatr. 1999; 67(12): 525-528.10.1055/s-2007-99522910683749]Search in Google Scholar
[Feather SA, Woolf AS, Donnai D, Malcolm S, Winter RM. The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3. Hum Molec Genet. 1997; 6(7): 1163-1167.10.1093/hmg/6.7.11639215688]Search in Google Scholar
[Thauvin-Rabinet C, Cossee M, Cormier-Daire V, Van Maldergem L, Toutain A, Alembik Y, Bieth E, Layet V, Parent P, David A, Goldenberg A, Mortier G, Heron D, Sagot P, Bouvier AM, Huet F, Cusin V, Donzel A, Devys D, Teyssier JR, Faivre L. Clinical, molecular, and geno-type-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. J Med Genet. 2006; 43(1): 54-61.10.1136/jmg.2004.027672256450416397067]Search in Google Scholar
[Macca M, Franco B. The molecular basis of oral-facial-digital syndrome, type 1. Am J Med Genet C Semin Med Genet. 2009; 151C(4): 318-325.10.1002/ajmg.c.3022419876934]Search in Google Scholar
[Neri G, Gurrieri F, Genuardi M. Oral-facial-skeletal syndromes. Am J Med Genet. 1995; 59(3): 365-368.10.1002/ajmg.13205903178599363]Search in Google Scholar
[Digilio MC, Marino B, Giannotti A, Dallapiccolla B. Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal. J Med Genet. 1996; 33(5): 416-418.10.1136/jmg.33.5.41610506148733055]Search in Google Scholar
[Verloes A. Numerical syndromology: a mathematical approach to the nosology of complex phenotypes. Am J Med Genet. 1995; 55(4): 433-43.10.1002/ajmg.1320550410]Search in Google Scholar
[Fransceshini P, Guala A, Vardeu MP, Signorile F, Franceschini D, Bolgiani MP. Short-rib dysplsia group (with/without polydactyly): Report of a patient suggesting the existence of a continuous spectrum. Am J Med Genet. 1995; 59(3): 359-364.10.1002/ajmg.1320590316]Search in Google Scholar
[Baraitser M. A female infant with features of Mohr and Majevski syndromes: variable expression, a genetic compound, or distinct entity? J Med Genet. 1983; 20(1): 65-67.10.1136/jmg.20.1.65]Search in Google Scholar
[Camera G, Marasini M, Pozzolo S, Camera A. Oral-facial-digital syndrome: report on a transitional type between the Mohr and Varadi syndromes in a fetus. Am J Med Genet. 1994; 53(2): 196-198.10.1002/ajmg.1320530215]Search in Google Scholar
[Chitayat D, Stalker HJ, Azouz EM. Autosomal recessive oral-facial-digital syndrome with resemblance to OFD types II, III, IV and VI: a new OFD syndrome? Am J Med Genet. 1992; 44(5): 567-572.10.1002/ajmg.1320440507]Search in Google Scholar
[Levy EP, Fletcher BD, Fraser FC. Mohr syndrome with subclinical expression of the bifid great toe. Am J Dis Child. 1974; 128(4): 531-533.10.1001/archpedi.1974.02110290101019]Search in Google Scholar
[Hsieh YC, Hou JW. Oral-facial-digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect. Am J Med Genet 1999; 86(3): 278-281.10.1002/(SICI)1096-8628(19990917)86:3<278::AID-AJMG16>3.0.CO;2-C]Search in Google Scholar
[Münke M, McDonald DM, Cronister A, Stewart JM, Gorlin RJ, Zackai EH. Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation. Am J Med Genet. 1990; 35(3): 360-369.10.1002/ajmg.1320350310]Search in Google Scholar
[Al-Qattan MM, Hassanain JMA. Classification of limb anomalies in oral-facial-digital syndromes. J Hand Surg B. 1997; 22(2): 250-252.10.1016/S0266-7681(97)80074-5]Search in Google Scholar
[Odent S, Le Marec B, Toutain A, David A, Vigneron J, Tréguier C, Jouan H, Milon J, Fryns JP, Verloes A. Central nervous system malformations and early endstage renal disease in oro-facio-digital syndrome type I: a review. Am J Med Genet. 1998; 75(4): 389-94.10.1002/(SICI)1096-8628(19980203)75:4<389::AID-AJMG8>3.0.CO;2-L]Search in Google Scholar
[Poretti A, Huisman TA, Scheer I, Boltshauser E. Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol. 2011; 32(8): 1459-1463.10.3174/ajnr.A2517]Search in Google Scholar
[Hall JG, Pallister PD, Clarren SK, Beckwith JB, Wiglesworth FW, Fraser FC, Cho S, Benke PJ, Reed SD. Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly - a new syndrome? Part I: clinical, causal, and pathogenetic considerations. Am J Med Genet. 1980; 7(1): 47-74.10.1002/ajmg.1320070110]Search in Google Scholar
[Opitz JM, Penchaszadeh VB, Holt M C, Spano LM. Smith-Lemli-Opitz (RSH) syndrome bibliography. Am J Med Genet. 1987; 28(3): 745-750.10.1002/ajmg.1320280324]Search in Google Scholar
[Verloes A, Ayme S, Gambarelli D, Gonzales M, Le Merrer M, Mulliez N, Philip N, Roume J. Holo-prosencephaly-polydactyly (‘pseudotrisomy 13’) syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study. J Med Genet 1991; 28(5): 297-303.10.1136/jmg.28.5.297]Search in Google Scholar
[Toriello HV, Carey J, Suslak E, Desposito F, Leonard B, Lipson M, Friedman B, Hoyme E. Six patients with oral-facial-digital syndorme IV: the case for heterogeneity. Am J Med Genet. 1997; 69(3): 250-260.10.1002/(SICI)1096-8628(19970331)69:3<250::AID-AJMG8>3.0.CO;2-P]Search in Google Scholar
[Annerén G, Gustavson KH, Jozwiak S, Kjartansson S, Strömberg B. Abnormalities of the cerebellum in oro-facio-digital syndrome II (Mohr syndrome). Clin Genet (Copenhagen). 1990; 38(1): 69-73.10.1111/j.1399-0004.1990.tb03549.x]Search in Google Scholar
[Ades LC, Clapton WK, Morphett A, Morris LL, Haan EA. Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: a new multiple malformation syndrome, or a severe form of oral-facial-digital syndrome type IV. Am J Med Genet. 1994; 49(2): 211-217.10.1002/ajmg.1320490211]Search in Google Scholar
[Meinecke P, Hayek H. Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies. J Med Genet. 1990; 27(3): 200-202.10.1136/jmg.27.3.200]Search in Google Scholar
[Toriello HV, Lemire E. Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant? Clin Dysmorphol. 2002; 11(1): 19-23.10.1097/00019605-200201000-00004]Search in Google Scholar
[Yildrim S, Akan M, Deviren A, Akoz T. Penile agenesis and clavicular anomaly in a child with oral facial digital syndrome. Clin Dysmorphol. 2002; 11(1): 29-32.10.1097/00019605-200201000-00006]Search in Google Scholar
[Balci S, Guler G, Kale G, Soylemezoglu F, Besim A. Mohr syndrome in two sisters: prenatal diagnosis in a 22-week-old fetus with post-mortem findings in both. Prenat Diag. 1999; 19(9): 827-831.10.1002/(SICI)1097-0223(199909)19:9<827::AID-PD644>3.0.CO;2-E]Search in Google Scholar
[Iaccarino M, Lonardo F, Giugliano M, Della Bruna MD. Prenatal diagnosis of Mohr syndrome by ultrasonography. Prenat Diagn. 1985; 5(6): 415-418.10.1002/pd.1970050607]Search in Google Scholar