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Article

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

European journal of human genetics : EJHG - 1 Aug 2016

Flöttmann Ricarda, Sowinska-Seidler Anna, Lavie Julie, Chateil Jean-François, Lacombe Didier, Mundlos Stefan, Horn Denise, Spielmann Malte

Abstract excerpt

Parathyroid hormone-like hormone (PTHLH, MIM 168470) plays an important role in endochondral bone development and prevents chondrocytes from differentiating. Disease-causing variants and haploinsufficiency of PTHLH are known to cause brachydactyly type E and short stature. So far, three large duplications encompassing several genes including PTHLH associating with enchondromatas and acro-osteolysis have been...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26733284
DOI: 10.1038/ejhg.2015.266
PMCID: PMC4970681

Genes

PTHLH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia.PMID 26733284Read ↗

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