CHRNG genotype-phenotype correlations in the multiple pterygium syndromes

Journal of Medical Genetics

Volumn 49, Issue 1, 2012, Pages 21-26

  Vogt, Julie ^a,b   Morgan, Neil V ^a   Rehal, Pauline ^b   Faivre, Laurence ^c   Brueton, Louise A ^b   Becker, Kristin ^d   Fryns, Jean Pierre ^e   Holder, Sue ^f   Islam, Lily ^f   Kivuva, Emma ^g   Lynch, Sally Ann ^h   Touraine, Renaud ⁱ   Wilson, Louise C ^j   MacDonald, Fiona ^b   Maher, Eamonn R ^a,b  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^c DIJON UNIVERSITY HOSPITAL   (France)

^d Labor Krone   (Germany)

^e UNIVERSITY OF LEUVEN   (Belgium)

^f EALING HOSPITAL NHS TRUST   (United Kingdom)

^g ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^h OUR LADY S CHILDREN S HOSPITAL   (Ireland)

ⁱ HÔPITAL NORD   (France)

^j GREAT ORMOND STREET HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINERGIC RECEPTOR;

AKINESIA; ARTICLE; CLEFT PALATE; CLINICAL ASSESSMENT; CLINICAL FEATURE; CYSTIC LYMPHANGIOMA; EXON; FETAL AKINESIA DEFORMATION; GENE MUTATION; GENETIC ASSOCIATION; GENITAL MALFORMATION; GENOTYPE PHENOTYPE CORRELATION; HEART DISEASE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYDRAMNIOS; HYDROPS; INTRON; JOINT CONTRACTURE; LUNG HYPOPLASIA; MAJOR CLINICAL STUDY; OLIGOHYDRAMNIOS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; WEBBED NECK;

ABNORMALITIES, MULTIPLE; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; FETAL GROWTH RETARDATION; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALIGNANT HYPERTHERMIA; MUTATION; PREGNANCY; PTERYGIUM; RECEPTORS, NICOTINIC; ULTRASONOGRAPHY, PRENATAL;

EID: 84856015113     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100378     Document Type: Article

References (18)

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