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Article

[NECRC syndrome caused by ZMYM2 gene variation in 2 cases].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Nov 2024

Yan D, Wang J L, Zhao N N, Huang K, Wu W, Dong G P, Wang J L

Abstract excerpt

2例患儿均因生长迟缓入院，且合并先天性泌尿道畸形，其中1例患儿存在特殊面容、语言及运动发育落后，基因检测提示这两例患儿均携带有ZMYM2基因杂合变异，结合患儿的临床表现及遗传学信息，临床诊断为“伴有不同程度的肾脏和心脏异常的神经发育-颅面综合征”，现生长激素治疗并于门诊定期随诊中。.

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Identifiers

PMID: 39429088
DOI: 10.3760/cma.j.cn112140-20240619-00410

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