Article
HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2023
Gottschalk Annika, Sczakiel Henrike L, Hülsemann Wiebke, Schwartzmann Sarina, Abad-Perez Angela T, Grünhagen Johannes, Ott Claus-Eric, Spielmann Malte, Horn Denise, Mundlos Stefan, Jamsheer Aleksander, Mensah Martin A
Abstract excerpt
PURPOSE: HOXD13 is an important regulator of limb development. Pathogenic variants in HOXD13 cause synpolydactyly type 1 (SPD1). How different types and positions of HOXD13 variants contribute to genotype-phenotype correlations, penetrance, and expressivity of SPD1 remains elusive. Here, we present a novel cohort and a literature review to elucidate HOXD13 phenotype-genotype correlations. METHODS: Patients with...
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