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Clinical next generation sequencing reveals an H3F3A gene as a new potential gene candidate for microcephaly associated with severe developmental delay, intellectual disability and growth retardation

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Figure 1

Facial features of the patient with a heterozygous de novo H3F3A gene variant p.(Leu62Arg) include wide and depressed nasal bridge, hypertelorism, hypotonic face and poorly formed, posteriorly set ears.
Facial features of the patient with a heterozygous de novo H3F3A gene variant p.(Leu62Arg) include wide and depressed nasal bridge, hypertelorism, hypotonic face and poorly formed, posteriorly set ears.

Figure 2

The identified H3F3A gene variant affects a highly evolutionary conserved leucine at amino acid position 62 in the Histone H3 protein, which is invariant in all the surveyed species (according to Multiz alignments). Figure was generated using the University of CA Santa Cruz (UCSC) genome browser (https://genome.ucsc.edu/)
The identified H3F3A gene variant affects a highly evolutionary conserved leucine at amino acid position 62 in the Histone H3 protein, which is invariant in all the surveyed species (according to Multiz alignments). Figure was generated using the University of CA Santa Cruz (UCSC) genome browser (https://genome.ucsc.edu/)
eISSN:
1311-0160
Lingua:
Inglese
Frequenza di pubblicazione:
2 volte all'anno
Argomenti della rivista:
Medicine, Basic Medical Science, other