Mutation analysis of the NRXN1 gene in autism spectrum disorders
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31. Dez. 2016
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Artikel-Kategorie: Original Article
Online veröffentlicht: 31. Dez. 2016
Seitenbereich: 17 - 22
DOI: https://doi.org/10.1515/bjmg-2016-0031
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© 2016 Onay H, Kacamak D, Kavasoglu AN, Akgun B, Yalcinli M, Kose S, Ozbaran B
This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Clinical characteristics and genetic results of the patient group_ (ASD: autism spectrum disorder; CARS: Childhood Autism Rating Scale_)
| Patient | Sex-Age | Family History of ASD | CARS | CARS Scores | Mutations | Mother | Father |
|---|---|---|---|---|---|---|---|
| P1 | M-17 | 37 | severely autistic | – | – | ||
| P2 | M-4 | 30 | mild/moderately autistic | S14L/- | – | S14L/- | |
| P3 | M10 | 49.5 | severely autistic | – | – | ||
| P4 | F-5 | 46 | severely autistic | – | – | ||
| P5 | M-15 | 31 | mild/moderately autistic | – | – | ||
| P6 | M-6 | 44 | severely autistic | – | – | ||
| P7 | M-5 | 41.5 | severely autistic | – | – | ||
| P8 | M-9 | 38.5 | severely autistic | – | – | ||
| P9 | M-7 | 41.5 | severely autistic | L748I/- | – | L748I/- | |
| P10 | M-11 | 42.5 | severely autistic | – | – | ||
| P11 | F-8 | 47.5 | severely autistic | – | – | ||
| P12 | M-10 | 32 | mild/moderately autistic | – | – | ||
| P13 | M-15 | 26 | mild/moderately autistic | – | – | ||
| P14 | M-4 | 51 | severely autistic | – | – | ||
| P15 | M-6 | 47 | severely autistic | – | – | ||
| P16 | M-6 | positive | 41.5 | severely autistic | – | – | |
| P17 | M-10 | 37 | severely autistic | – | – | ||
| P18 | F-6 | 37 | severely autistic | – | – | ||
| P19 | M-10 | 38 | severely autistic | – | – | ||
| P20 | M-8 | 43 | severely autistic | – | – | ||
| P21 | M-9 | 37 | severely autistic | – | – | ||
| P22 | M-8 | positive | 31.5 | mild/moderately autistic | – | – | |
| P23 | M-18 | 50 | severely autistic | – | – | ||
| P24 | M-4 | 46.5 | severely autistic | – | – | ||
| P25 | F-14 | positive | 31 | mild/moderately autistic | – | – | |
| P26 | M-9 | 35 | mild/moderately autistic | – | – | ||
| P27 | M-8 | 30 | mild/moderately autistic | – | – | ||
| P28 | M-3 | 53 | severely autistic | – | – | ||
| P29 | M-4 | 39 | severely autistic | – | – | ||
| P30 | F-4 | 42 | severely autistic | – | – |