A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly

American Journal of Medical Genetics, Part A

Volumn 170, Issue 1, 2016, Pages 11-18

  Marcadier, Julien L ^a   Mears, Alan J ^a   Woods, Elizabeth A ^b   Fisher, Jamie ^c   Airheart, Cory ^b   Qin, Wen ^a   Beaulieu, Chandree L ^a   Dyment, David A ^a   Innes, A Micheil ^d   Curry, Cynthia J ^c,e  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b University of Ottawa ^*  (United States)

^c Genetic Medicine Central California   (United States)

^d UNIVERSITY OF CALGARY   (Canada)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Anophthalmia microphthalmia; Contractures; Matthew Wood syndrome; PDAC syndrome; STRA6

Indexed keywords

ANOPHTHALMIA; ARTERIAL TRUNK; ARTICLE; CAMPTODACTYLY; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; CONTRACTURE; DIAPHRAGM DISEASE; FAMILY; FEMALE; FETUS; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HMONG (PEOPLE); HUMAN; HUMAN TISSUE; INFANT; LUNG AGENESIS; LUNG HYPOPLASIA; MALE; PALPEBRAL FISSURE ANOMALY; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; STRA6 GENE; UNITED STATES; ABNORMALITIES; ALTERNATIVE RNA SPLICING; CALIFORNIA; CONSANGUINITY; GENETICS; GESTATIONAL AGE; HAND MALFORMATION; HOMOZYGOTE; LUNG; LUNG DISEASE; MICROPHTHALMIA; MULTIPLE MALFORMATION SYNDROME; MUTATION; NEWBORN; PATHOLOGY; PEDIGREE; PREGNANCY; PROGNOSIS; SYNDROME;

MEMBRANE PROTEIN; STRA6 PROTEIN, HUMAN;

ABNORMALITIES, MULTIPLE; ALTERNATIVE SPLICING; ANOPHTHALMOS; CALIFORNIA; CONSANGUINITY; CONTRACTURE; FEMALE; GESTATIONAL AGE; HAND DEFORMITIES, CONGENITAL; HEART DEFECTS, CONGENITAL; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; LUNG; LUNG DISEASES; MALE; MEMBRANE PROTEINS; MICROPHTHALMOS; MUTATION; PEDIGREE; PREGNANCY; PROGNOSIS; SYNDROME;

EID: 84955673977     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37389     Document Type: Article

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