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Article

[A case of Aymé-Gripp syndrome presenting with bilateral microtia as the initial symptom].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery - 7 Jul 2026

Zhang X H, Zhang Y M, Zhong Z

Abstract excerpt

报道1例以双侧小耳畸形为首发症状的Aymé-Gripp综合征患儿全外显子基因检测MAF基因新发错义突变：NM_005360.5：exon1：c.902A>G（p.Tyr301Cys）。3月龄男性患儿有类唐氏综合征面容、双侧先天性白内障、卵圆孔未闭，目前随访观察。.

Read the complete abstract on PubMed

Topics

Humans
Male
Infant
Congenital Microtia
Syndrome
Abnormalities, Multiple
Mutation

Source

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 42706071
DOI: 10.3760/cma.j.cn115330-20260224-00107

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Provenance

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