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Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene
- Source :
- The Indian Journal of Pediatrics. 83:1003-1005
- Publication Year :
- 2016
- Publisher :
- Springer Science and Business Media LLC, 2016.
-
Abstract
- Cartilage-hair hypoplasia is an autosomal recessive disorder, characterized by short stature, metaphyseal dysplasia, hypotrichosis and immunodeficiency. More than 90 different biallelic mutations in RMRP gene have been identified to cause this condition. Three cases previously reported from India showed novel mutations in RMRP gene. The authors report two unrelated cases with the more common g.70A > G mutation, stressing the need to screen for this mutation in Indian population having features of cartilage-hair hypoplasia.
- Subjects :
- Male
0301 basic medicine
medicine.medical_specialty
India
Osteochondrodysplasias
Short stature
03 medical and health sciences
0302 clinical medicine
Internal medicine
Endoribonucleases
medicine
Cartilage–hair hypoplasia
Humans
Child
Gene
Immunodeficiency
Genetics
business.industry
medicine.disease
Metaphyseal dysplasia
Hypoplasia
Cartilage
030104 developmental biology
Endocrinology
Child, Preschool
Mutation
Pediatrics, Perinatology and Child Health
Mutation (genetic algorithm)
Hypotrichosis
RNA, Long Noncoding
medicine.symptom
business
030217 neurology & neurosurgery
Hair
Subjects
Details
- ISSN :
- 09737693 and 00195456
- Volume :
- 83
- Database :
- OpenAIRE
- Journal :
- The Indian Journal of Pediatrics
- Accession number :
- edsair.doi.dedup.....e22008aa3bda7032acca9a2a05815587