Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations

American Journal of Human Genetics

Volumn 62, Issue 6, 1998, Pages 1370-1380

  Paznekas, William A ^a   Cunningham, Michael L ^b   Howard, Timothy D ^a   Korf, Bruce R ^c   Lipson, Mark H ^d   Grix, Art W ^d   Feingold, Murray ^e   Goldberg, Rosalie ^f   Borochowitz, Zvi ^g   Aleck, Kirk ^h   Mulliken, John ^c   Yin, Mingfei ^a   Jabs, Ethylin Wang ^a  

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

^b UNIVERSITY OF WASHINGTON   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d KAISER PERMANENTE MEDICAL CENTER   (United States)

^e National Birth Defects Center   (United States)

^f ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^g BNAI ZION MEDICAL CENTER   (Israel)

^h UNIVERSITY OF ARIZONA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRACHYCEPHALY; CLINICAL ARTICLE; CLINICAL FEATURE; CLINODACTYLY; CRANIOFACIAL SYNOSTOSIS; FEMALE; GENE DELETION; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; HYPERTELORISM; INFANT; LIMB MALFORMATION; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PTOSIS; SYNDROME;

EID: 17344363396     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301855     Document Type: Article

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