Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome

BACKGROUND: KBG syndrome, a rare autosomal disorder characterised by distinctive craniofacial and skeletal features and developmental delay, is caused by haploinsufficiency of the ANKRD11 gene. RESULTS: Here we describe two siblings with multiple symptoms characteristic of KBG and their mother with...

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Sparad:
Bibliografiska uppgifter
I publikationen:Mol Cytogenet
Huvudupphovsmän: Crippa, Milena, Rusconi, Daniela, Castronovo, Chiara, Bestetti, Ilaria, Russo, Silvia, Cereda, Anna, Selicorni, Angelo, Larizza, Lidia, Finelli, Palma
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2015
Ämnen:
Case Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4383199/
https://ncbi.nlm.nih.gov/pubmed/25838844
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0126-7
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