Molecular Basis for Hypochondroplasia in Japan

Molecular Basis for Hypochondroplasia in Japan

Hypochondroplasia is an autosomal dominant genetic disorder due to a heterozygous pathogenic variant of the <i>FGFR3</i> gene. The early diagnosis of hypochondroplasia is necessary, since growth hormone is effective for improving adult height. The genetic test for the <i>FGFR3</...

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Bibliographic Details
Main Authors: Tomohiro Ishii, Masaki Takagi, Keisuke Nagasaki, Toshio Ohara, Kentaro Miyai, Tomoki Kosho, Fumio Takada, Gen Nishimura, Tomonobu Hasegawa
Format: Article
Language:English
Published: MDPI AG 2022-07-01
Series:Endocrines
Subjects:
hypochondroplasia
<i>FGFR3</i>
genotype
Online Access:https://www.mdpi.com/2673-396X/3/3/34

Internet

https://www.mdpi.com/2673-396X/3/3/34

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