Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report

BACKGROUND: Two interstitial microdeletions Xp11.22 including the CLCN5 and SHROOM4 genes were recently reported in a male individual affected with Dent disease, short stature, psychomotor delay and minor facial anomalies. Dent disease, characterized by a specific renal phenotype, is caused by trunc...

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Detalles Bibliográficos
Autores principales: Danyel, Magdalena, Suk, Eun Kyung, Raile, Vera, Gellermann, Jutta, Knaus, Alexej, Horn, Denise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327553/
https://www.ncbi.nlm.nih.gov/pubmed/30630535
http://dx.doi.org/10.1186/s12920-018-0471-6

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