A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

Journal of Medical Genetics

Volumn 52, Issue 7, 2015, Pages 446-453

  Azzi, Salah ^a,b,c,d   Salem, Jennifer ^e   Thibaud, Nathalie ^a,b,c   Chantot Bastaraud, Sandra ^c   Lieber, Eli ^f   Netchine, Iréne ^a,b,c   Harbison, Madeleine D ^g  

^a CENTRE DE RECHERCHE SAINT ANTOINE   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c ARMAND TROUSSEAU HOSPITAL   (France)

^d BABRAHAM INSTITUTE   (United Kingdom)

^e MAGIC Foundation   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 1C;

ADOLESCENT; ADULT; ARTICLE; BIRTH; BODY HEIGHT; BODY MASS; BODY WEIGHT; CHILD; CHROMOSOME ABERRATION; CLINICAL FEATURE; CLINICAL SCORING SYSTEM; CLINICAL STUDY; COPY NUMBER VARIATION; FEMALE; FOREHEAD; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HUMAN; HYPOPARATHYROIDISM; MACROCEPHALY; MAJOR CLINICAL STUDY; MALE; METHYLATION; POSTNATAL GROWTH; PRIORITY JOURNAL; PROSPECTIVE STUDY; SCORING SYSTEM; SENSITIVITY AND SPECIFICITY; SILVER RUSSELL SYNDROME; SMALL FOR DATE INFANT; ABNORMALITIES; ALEXANDER DISEASE; BIRTH WEIGHT; GENETICS; GENOTYPE; GROWTH; METHODOLOGY; PATHOLOGY; PHENOTYPE; PHYSIOLOGY; STANDARDS; VALIDATION STUDY;

BIRTH WEIGHT; BODY MASS INDEX; FOREHEAD; GENOTYPE; GROWTH; HUMANS; MEGALENCEPHALY; PHENOTYPE; PROSPECTIVE STUDIES; RESEARCH DESIGN; SILVER-RUSSELL SYNDROME;

EID: 84934766094     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102979     Document Type: Article

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