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Article

[Heterozygous variation identified in PDE4D gene caused acrodysostosis].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Nov 2019

Wang J L, Yuan J N, Huang K, Zhang L, Dong G P

Abstract excerpt

1例表现为身材矮小、智力发育落后的4岁4月龄女性患儿2018年11月就诊于浙江大学医学院附属儿童医院内分泌科，经体格检查、血化验、影像学和基因分析，诊断为肢端发育不全。本患儿为PDE4D基因变异所致的肢端发育不全，是一种罕见的常染色体显性遗传综合征。.

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Share to Cyclic Nucleotide Phosphodiesterases, Type 4
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Source

Identifiers

PMID: 31665847
DOI: 10.3760/cma.j.issn.0578-1310.2019.11.016

Provenance

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.

Related research

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[Heterozygous variation identified in PDE4D gene caused acrodysostosis].PMID 31665847Read ↗

Exome sequencing identifies PDE4D mutations in acrodysostosis.Semantic proximity Read ↗

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Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.Semantic proximity Read ↗

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Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation.Semantic proximity Read ↗

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