Phenotypic variability in a three-generation Northern Irish family with Sotos syndrome

Clinical Dysmorphology

Volumn 20, Issue 4, 2011, Pages 175-181

  Donnelly, Deirdre E ^a   Turnpenny, Peter ^b,c   McConnell, Vivienne P M ^a  

^a BELFAST CITY HOSPITAL   (United Kingdom)

^b ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^c UNIVERSITY OF EXETER   (United Kingdom)

Author keywords

familial; phenotypic variation; Sotos syndrome; three generation

Indexed keywords

MEMBRANE PROTEIN; NUCLEAR RECEPTOR SET DOMAIN CONTAINING PROTEIN 1; UNCLASSIFIED DRUG; VALPROIC ACID;

ARTICLE; BIRTH WEIGHT; CASE REPORT; CHROMOSOME ANALYSIS; EPILEPSY; FAMILIAL DISEASE; FEEDING DISORDER; FEMALE; GENETIC ANALYSIS; GENETIC VARIABILITY; GROWTH; HEAD CIRCUMFERENCE; HUMAN; KARYOTYPE; LORDOSIS; MACROCEPHALY; MISSENSE MUTATION; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SOTOS SYNDROME;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; FAMILY HEALTH; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; MUTATION; NORTHERN IRELAND; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; SOTOS SYNDROME; YOUNG ADULT;

EID: 80052651802     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0b013e328349182d     Document Type: Article

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