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Article

[A case of Börjeson-Forssman-Lehmann syndrome caused by PHF6 gene mutation].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 May 2021

Que Y X, Li P, Hu S X

Abstract excerpt

患儿　男，5月龄3日龄，因“发育落后”于2020年5月至厦门大学附属妇女儿童医院就诊。患儿临床表现智力低下、运动发育迟缓，特殊面容，身材矮小、特征性手指足趾、外生殖器小等。基因检测检出致病性基因变异：PHF6基因c.788T>G半合子变异，通过检索人类孟德尔遗传数据库尚无该位点报道。诊断为Börjeson-Forssman-Lehmann综合征。.

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Identifiers

PMID: 33902228
DOI: 10.3760/cma.j.cn112140-20201015-00944

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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