Coffin-Siris Syndrome 4-Related Spectrum in a Young Woman Caused by a Heterozygous SMARCA4 Deletion Detected by High-Resolution aCGH

Coffin-Siris Syndrome 4 is an autosomal dominant congenital malformation syndrome caused by heterozygous mutations in the SMARCA4 gene with its main features being intellectual disability, developmental delay, behavioral abnormalities, and hypoplastic or absent fifth fingernails and fifth distal pha...

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Bibliographische Detailangaben
Veröffentlicht in:Mol Syndromol
Hauptverfasser: Mitrakos, Anastasios, Lazaros, Leandros, Pantou, Amelia, Mavrou, Ariadni, Kanavakis, Emmanuel, Tzetis, Maria
Format: Artigo
Sprache:Inglês
Veröffentlicht: S. Karger AG 2020
Schlagworte:
Novel Insights from Clinical Practice
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7445571/
https://ncbi.nlm.nih.gov/pubmed/32903985
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000508563
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