Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome

Journal of Medical Genetics

Volumn 33, Issue 11, 1996, Pages 947-951

  Biesecker, Leslie G ^a   Kang, Seongman ^a   Schäffer, Alejandro A ^a,b   Abbott, Margaret ^c   Kelley, Richard I ^c   Allen, Jeffrey C ^d   Clericuzio, Carol ^e   Grebe, Theresa ^f   Olney, Ann ^g   Graham Jr , John M ^h  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b The NanoCarbon Center and Welch Institute for Advanced Materials   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d NEW YORK UNIVERSITY   (United States)

^e UNIVERSITY OF NEW MEXICO   (United States)

^f UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

^g UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^h UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Autosomal dominant inheritance; Hypothalamic hamartoma; Linkage analysis; Polydactyly

Indexed keywords

CHOLESTEROL;

ALLELE; ANUS ATRESIA; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BIOCHEMISTRY; BRAIN MALFORMATION; CHOLESTEROL SYNTHESIS; CHROMOSOME 17Q; CHROMOSOME 3P; CHROMOSOME 7Q; CHROMOSOME TRANSLOCATION 7; CONTROLLED STUDY; FAMILY; FEMALE; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; HAMARTOMA; HAND MALFORMATION; HUMAN; HUMAN CELL; KIDNEY MALFORMATION; LUNG MALFORMATION; MAJOR CLINICAL STUDY; MALE; MALFORMATION SYNDROME; PALLISTER HALL SYNDROME; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME; VERTICAL TRANSMISSION;

EID: 19244362786     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.11.947     Document Type: Article

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