학술논문
Japanese siblings with cartilage‐hair hypoplasia exhibiting different severity.
Document Type
Case Study
Source
Subject
*SIBLINGS
*GENETIC mutation
*RNA
*GENE expression
*PSYCHOSOCIAL factors
*HAIR
*OSTEOCHONDRODYSPLASIAS
*BIRTH weight
*GENETIC markers
*RARE diseases
*SMALL for gestational age
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Language
ISSN
1328-8067
Abstract
The article presents a case study of two siblings diagnosed with cartilage-hair hypoplasia (CHH) through newborn screening for severe combined immunodeficiency (SCID) followed by next-generation sequencing (NGS). It is reported that CHH is a rare disorder characterized by skeletal dysplasia, short stature, hair hypoplasia, immunodeficiency, and an increased risk of various conditions.