Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Deletion and point mutations of PTHLH cause brachydactyly type E.

American journal of human genetics - 12 Mar 2010

Klopocki Eva, Hennig Bianca P, Dathe Katarina, Koll Randi, de Ravel Thomy, Baten Emiel, Blom Eveline, Gillerot Yves, Weigel Johannes F W, Krüger Gabriele, Hiort Olaf, Seemann Petra, Mundlos Stefan

Abstract excerpt

Autosomal-dominant brachydactyly type E (BDE) is a congenital limb malformation characterized by small hands and feet predominantly as a result of shortened metacarpals and metatarsals. In a large pedigree with BDE, short stature, and learning disabilities, we detected a microdeletion of approxim...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chick Embryo
Share to Codon, Nonsense
Share to Foot Deformities, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Dominant

Share to Growth Disorders

Share to Hand Deformities, Congenital

Share to Limb Deformities, Congenital

Share to Parathyroid Hormone-Related Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 20170896
DOI: 10.1016/j.ajhg.2010.01.023
PMCID: PMC2833367

Genes

PTHLH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20170896-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deletion and point mutations of PTHLH cause brachydactyly type E.PMID 20170896Read ↗

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

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

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

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

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

Duplicated zebrafish co-orthologs of parathyroid hormone-related peptide (PTHrP, Pthlh) play different roles in craniofacial skeletogenesis.Semantic proximity Read ↗

Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.Semantic proximity Read ↗

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.Semantic proximity Read ↗

Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.