Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature

BACKGROUND: Split hand/foot malformation (SHFM) is a group of congenital skeletal disorders which may occur either as an isolated abnormality or in syndromic forms with extra-limb manifestations. Chromosomal micro-duplication or micro-triplication involving 17p13.3 region has been described as the m...

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Bibliografiske detaljer
Udgivet i:BMC Med Genet
Main Authors: Paththinige, Chamara Sampath, Sirisena, Nirmala Dushyanthi, Escande, Fabienne, Manouvrier, Sylvie, Petit, Florence, Dissanayake, Vajira Harshadeva Weerabaddana
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2019
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6570964/
https://ncbi.nlm.nih.gov/pubmed/31200655
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0839-2
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