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Article

Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2.

American journal of medical genetics. Part A - 1 Jul 2022

Maruwaka Kaori, Nakajima Yoko, Yamada Takaharu, Tanaka Taihei, Kosaki Rika, Inagaki Hidehito, Kosaki Kenjiro, Kurahashi Hiroki

Abstract excerpt

Noonan syndrome-like disorder with loose anagen hair (NSLH) is a rare disease characterized by typical features of Noonan syndrome with additional findings of relative or absolute macrocephaly, loose anagen hair, and a higher incidence of intellectual disability. NSLH1 is caused by a heterozygous mutation in the SHOC2 gene on chromosome 10q25, and NLSH2 is caused by a heterozygous mutation in the Protein...

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Identifiers

PMID: 35338599
DOI: 10.1002/ajmg.a.62733

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Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2.PMID 35338599Read ↗

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