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Article

Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?

American journal of medical genetics. Part A - 1 Nov 2017

Baas Martijn, Potuijt Jacob W P, Hovius Steven E R, Hoogeboom A Jeannette M, Galjaard Robert-Jan H, van Nieuwenhoven Christianne A

Abstract excerpt

Triphalangeal thumbs (TPTs) are regularly caused by mutations in the ZRS in LMBR1. Phenotypic variability can be present in TPT-families. However, recent observations suggest an increased occurrence of severe phenotypes in the Dutch TPT-population. Therefore, the aim of this study is to investigate the progression of the clinical severity of TPT-phenotype through generations. Index patients from a Dutch...

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Source

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Identifiers

PMID: 28889454
DOI: 10.1002/ajmg.a.38398
PMCID: PMC5698718

Genes

LMBR1
SHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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