Pycnodysostosis: mutation spectrum in five unrelated Indian children.
aDepartment of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh bDepartment of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research and Seth Sukhlal Karnani Memorial Hospital, Kolkata cDepartment of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad dDepartment of Pediatrics, Genetics Division, All India Institute of Medical Sciences, New Delhi, India.
Kausik
K
Mandal
Sayantan
S
Ray
Deepti
D
Saxena
Priyanka
P
Srivastava
Amita
A
Moirangthem
Prajnya
P
Ranganath
Neerja
N
Gupta
Satinath
S
Mukhopadhyay
Madhulika
M
Kabra
Shubha R
SR
Phadke
D000293:Adolescent; D000483:Alleles; D001483:Base Sequence; D056657:Cathepsin K / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D007194:India; D007223:Infant; D008297:Male; D009154:Mutation; D010641:Phenotype; D058631:Pycnodysostosis / Q000175:diagnosis / Q000235:genetics*
C534130:CTSK protein, human; D056657:Cathepsin K