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Article

A PDE3A mutation in familial hypertension and brachydactyly syndrome.

Journal of human genetics - 1 Aug 2016

Boda Hiroko, Uchida Hidetoshi, Takaiso Nobue, Ouchi Yuya, Fujita Naoko, Kuno Asami, Hata Tadayoshi, Nagatani Arisa, Funamoto Yuri, Miyata Masafumi, Yoshikawa Tetsushi, Kurahashi Hiroki, Inagaki Hidehito

Abstract excerpt

Hypertension and brachydactyly syndrome (HTNB) with short stature is an autosomal-dominant disorder. Mutations in the PDE3A gene located at 12p12.2-p11.2 were recently identified in HTNB families. We found a novel heterozygous missense mutation c.1336T>C in exon 4 of the PDE3A gene in a Japanese family with multiple HTNB patients. This mutation was found to be completely linked to the family members who inherited...

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PMID: 27053290
DOI: 10.1038/jhg.2016.32

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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