| Autor: |
Muhammad, Kohailan, Omayma, Al-Saei, Sujitha, Padmajeya, Waleed, Aamer, Najwa, Elbashir, Ammira, Al-Shabeeb Akil, Abdul-Rauf, Kamboh, Khalid, Fakhro |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Cold Spring Harbor molecular case studies. 8(4) |
| ISSN: |
2373-2873 |
| Popis: |
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder inherited in an autosomal dominant pattern. Major characteristics include developmental delay, craniofacial malformations such as malar and mandibular hypoplasia, and ear anomalies. Here, we report a 4.5-yr-old female patient with symptoms fitting MFDM. Using whole-genome sequencing, we identified a de novo start-codon loss (c.3GT) in the |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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