Camptodactyly and Early-Onset Scoliosis in Snijders Blok–Campeau Syndrome

Snijders Blok–Campeau syndrome is caused by a heterozygous CHD3 pathogenic variant, and characterized by features including macrocephaly, speech delay, hypotonia, and joint laxity. In the hereby-presented case, a Japanese girl with Snijders Blok–Campeau syndrome displayed bilateral middle finger cam...

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Bibliografski detalji

Glavni autori:	Masaki Miura, Yu Kobayashi, Moemi Hojo, Kei Yamada, Hitomi Fujii, Keiko Eimori, Kumiko Yanagi, Tadashi Kaname, Keisuke Nagasaki, Hiromi Nyuzuki, Takeshi Ikeuchi, Jun Tohyama
Format:	Artigo
Jezik:	Inglês
Izdano:	Wiley 2026-01-01
Serija:	Case Reports in Genetics
Online pristup:	http://dx.doi.org/10.1155/crig/9968980
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