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Article

A new acro-osteolysis syndrome caused by duplications including PTHLH.

Journal of human genetics - 1 Sept 2014

Gray Mary J, van Kogelenberg Margriet, Beddow Rachel, Morgan Tim, Wordsworth Paul, Shears Deborah J, Robertson Stephen P, Hurst Jane A

Abstract excerpt

Parathyroid hormone-like hormone (PTHLH, MIM 168470) is a humoral factor, structurally and functionally related to parathyroid hormone, which mediates multiple effects on chondrocyte, osteoblast and osteoclast function. Mutations and copy number imbalances of the PTHLH locus and in the gene encoding its receptor, PTHR1, result in a variety of skeletal dysplasias including brachydactyly type E, Eiken syndrome,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25007883
DOI: 10.1038/jhg.2014.58

Genes

PTHLH

Provenance

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A new acro-osteolysis syndrome caused by duplications including PTHLH.PMID 25007883Read ↗

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Eiken syndrome with parathyroid hormone resistance due to a novel parathyroid hormone receptor type 1 mutation: clinical features and functional analysis.Semantic proximity Read ↗

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