A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation

American Journal of Medical Genetics, Part A

Volumn 149, Issue 3, 2009, Pages 521-524

  Fan, Zhipeng ^a   Du, Juan ^a   Liu, Huimin ^b   Zhang, Honglai ^c   Dlugosz, Andrzej A ^d   Wang, Cun Yu ^c   Fan, Ming ^e   Shen, Yan ^f,g   Wang, Songlin ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

^b Daqin Longnan Hospital   (China)

^c UNIVERSITY OF MICHIGAN SCHOOL OF DENTISTRY   (United States)

^d UNIVERSITY OF MICHIGAN   (United States)

^e INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

^f CHINESE NATIONAL HUMAN GENOME CENTER AT SHANGHAI   (China)

^g INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN PATCHED 2;

ADULT; AGED; CHINESE; CHROMOSOME 1P; CLINICAL ARTICLE; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; HAPLOTYPE; HUMAN; LETTER; MACROSTOMIA; MALE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PTCH2 GENE;

ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CELL LINE; CHINA; CHROMOSOMES, HUMAN, PAIR 1; DISEASE SUSCEPTIBILITY; EXONS; FAMILY; GENES, REPORTER; GENETIC MARKERS; HAPLOTYPES; HETEROZYGOTE; HUMANS; LINKAGE (GENETICS); LOD SCORE; LUCIFERASES; MACROSTOMIA; MUTATION; PEDIGREE; RECEPTORS, CELL SURFACE; TIME FACTORS; TRANSFECTION;

EID: 61749092679     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32647     Document Type: Letter

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