TY - JOUR
T1 - Novel mutation in a child with goltz syndrome
AU - Kapoor, Seema
AU - Ghosh, Vidyabrata
AU - McGrath, John A.
AU - Kochar, Atul Mohan
AU - Kapoor, Harit
AU - Malik, Reetika
PY - 2012/1
Y1 - 2012/1
N2 - Goltz syndrome or focal dermal hypoplasia is a rare clinical syndrome presenting with cutaneous, skeletal, dental, ocular, central nervous system and soft-tissue defects. The authors report a female child clinically diagnosed as Goltz syndrome, confirmed to have a novel splice site mutation IVS2+1G>A of PORCN gene. Review of the 80 or so pathogenic mutations reported in the literature shows this to be a new mutation.
AB - Goltz syndrome or focal dermal hypoplasia is a rare clinical syndrome presenting with cutaneous, skeletal, dental, ocular, central nervous system and soft-tissue defects. The authors report a female child clinically diagnosed as Goltz syndrome, confirmed to have a novel splice site mutation IVS2+1G>A of PORCN gene. Review of the 80 or so pathogenic mutations reported in the literature shows this to be a new mutation.
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U2 - 10.1007/s12098-011-0513-y
DO - 10.1007/s12098-011-0513-y
M3 - Article
C2 - 21732017
AN - SCOPUS:84857057491
SN - 0019-5456
VL - 79
SP - 120
EP - 123
JO - Indian Journal of Pediatrics
JF - Indian Journal of Pediatrics
IS - 1
ER -