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[Missense mutation of SPRY4 gene in Kallmann syndrome: a case report].

Zhonghua nei ke za zhi - 1 Jul 2023

Hui Q, Zhang Q, Qian G F

Abstract excerpt

Kallmann综合征是一种罕见的先天性疾病，主要表现为嗅觉缺陷和低促性腺激素性性腺功能减退［1］。迄今为止，已发现30余种基因与该病相关。本文报道1例因自幼嗅觉缺失、发现阴茎短小4年就诊的青少年男性，经基因检测诊断为由少见基因SPRY4错义突变引起的Kallmann综合征，旨在丰富疾病基因突变谱，同时提高临床医生对该病的认识。.

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Identifiers

PMID: 37394858
DOI: 10.3760/cma.j.cn112138-20221009-00744

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