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Article

SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably.

Orphanet journal of rare diseases - 26 Aug 2022

Bukowska-Olech Ewelina, Sowińska-Seidler Anna, Wierzba Jolanta, Jamsheer Aleksander

Abstract excerpt

BACKGROUND: Split-hand/ foot malformation with long bone deficiency 3 (SHFLD3) is an extremely rare condition associated with duplications located on 17p13.3, which invariably encompasses the BHLHA9 gene. The disease inherits with variable expressivity and significant incomplete penetrance as high as 50%. RESULTS: We have detected 17p13.3 locus one-allele triplication in a male proband from family 1 (F1.1), and...

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Basic Helix-Loop-Helix Transcription Factors
Comparative Genomic Hybridization
Gene Duplication
Limb Deformities, Congenital
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36028842
DOI: 10.1186/s13023-022-02480-w
PMCID: PMC9419377

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