TY - JOUR
T1 - Cartilage Hair Hypoplasia
T2 - Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene
AU - Narayanan, Dhanya Lakshmi
AU - Shukla, Anju
AU - Siddesh, Anju Rani
AU - Stephen, Joshi
AU - Srivastava, Priyanka
AU - Mandal, Kausik
AU - Phadke, Shubha R.
PY - 2016/9/1
Y1 - 2016/9/1
N2 - 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.
AB - 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.
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U2 - 10.1007/s12098-015-1947-4
DO - 10.1007/s12098-015-1947-4
M3 - Article
AN - SCOPUS:84981262533
VL - 83
SP - 1003
EP - 1005
JO - Indian Journal of Practical Pediatrics
JF - Indian Journal of Practical Pediatrics
SN - 0972-9607
IS - 9
ER -