Diagnostic and clinical approach to a paediatric patient with skin aplasia of the head as a rare manifestation of Xia-Gibbs syndrome caused by a new, potentially pathogenic de novo mutation in the AHDC1 gene

Diagnostic and clinical approach to a paediatric patient with skin aplasia of the head as a rare manifestation of Xia-Gibbs syndrome caused by a new, potentially pathogenic de novo mutation in the AHDC1 gene

Xia-Gibbs syndrome is caused by pathogenic variants in the AHDC1 gene. The characteristic features of the syndrome include delayed psychomotor and speech development, short stature, hypotonia, intellectual disability, structural brain anomalies, and mild facial dysmorphia. A boy came to the Genetic...

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Bibliographic Details
Main Authors: Gabriela Ręka, Mateusz Górecki, Katarzyna Wojciechowska, Monika Lejman
Format: Article
Language:English
Published: Termedia Publishing House 2025-03-01
Series:Pediatria Polska
Subjects:
whole-exome sequencing
xia-gibbs syndrome
ahdc1 gene.
Online Access:https://www.termedia.pl/Diagnostic-and-clinical-approach-to-a-paediatric-patient-with-skin-aplasia-of-the-head-as-a-rare-manifestation-of-Xia-Gibbs-syndrome-caused-by-a-new-potentially-pathogenic-de-novo-mutation-in-the-AHDC,127,55842,1,1.html
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