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Article

The p.R56* mutation in PTHLH causes variable brachydactyly type E.

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

Pereda Arrate, Garzon-Lorenzo Lucia, Garin Intza, Cruz-Rojo Jaime, Sanchez Del Pozo Jaime, Perez de Nanclares Guiomar

Abstract excerpt

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28211986
DOI: 10.1002/ajmg.a.38067

Genes

PTHLH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

The p.R56* mutation in PTHLH causes variable brachydactyly type E.PMID 28211986Read ↗

A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.Semantic proximity Read ↗

Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.Semantic proximity Read ↗

Case Report: A novel PTHLH nonsense variant in a mother-son pair with brachydactyly type E and short stature, with a genotype-stature review.Semantic proximity Read ↗

A novel brachydactyly type E syndrome caused by variants in helix 8 of the PTH1R.Semantic proximity Read ↗

Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.Semantic proximity Read ↗

Deletion and point mutations of PTHLH cause brachydactyly type E.Semantic proximity Read ↗

Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1.Semantic proximity Read ↗

A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies.Semantic proximity Read ↗

Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia.Semantic proximity Read ↗

Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations.Semantic proximity Read ↗

Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance.Semantic proximity Read ↗

A new acro-osteolysis syndrome caused by duplications including PTHLH.Semantic proximity Read ↗

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