Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome.

Autor: Maceda EBG; Division of Clinical Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines egmaceda@up.edu.ph., Kratz LE; Biochemical Genetics Laboratory, Kennedy Krieger Institute, Baltimore, Maryland, USA., Ramos VME; Dermatology, University of the Philippines Manila, Manila, Philippines., Abacan MAR; Division of Clinical Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines.; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.

Publikováno v: BMJ case reports [BMJ Case Rep] 2020 Nov 02; Vol. 13 (11). Date of Electronic Publication: 2020 Nov 02.