Temple syndrome: Improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: An analysis of 51 published cases

Journal of Medical Genetics

Volumn 51, Issue 8, 2014, Pages 495-501

  Ioannides, Yiannis ^a   Lokulo Sodipe, Kemi ^a,b   Mackay, Deborah J G ^a,c   Davies, Justin H ^a,d   Temple, I Karen ^a,b  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^b PRINCESS ANNE HOSPITAL   (United Kingdom)

^c SALISBURY NHS FOUNDATION TRUST   (United Kingdom)

^d UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CLOBAZAM; CORTICOTROPIN; GONADORELIN AGONIST; GROWTH HORMONE; LEUPRORELIN; ORAL ANTIDIABETIC AGENT;

ADULT; ANTICONVULSANT THERAPY; ARTICLE; BIRTH WEIGHT; BODY HEIGHT; CHILD; CHROMOSOME 14; CHROMOSOME DELETION; CHROMOSOME DELETION 14; CLINICAL FEATURE; CLINODACTYLY; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; EPILEPSY; FEEDING DIFFICULTY; FEMALE; GENOME IMPRINTING; GENOTYPE PHENOTYPE CORRELATION; GLYCEMIC CONTROL; GROWTH HORMONE DEFICIENCY; GROWTH RETARDATION; HORMONE SUBSTITUTION; HUMAN; HYPERGLYCEMIA; HYPOGLYCEMIA; INTELLIGENCE; INTELLIGENCE QUOTIENT; MAJOR CLINICAL STUDY; MALE; MENARCHE; MUSCLE HYPOTONIA; NON INSULIN DEPENDENT DIABETES MELLITUS; OBESITY; PREMATURITY; PRIORITY JOURNAL; PUBERTY; TEMPLE SYNDROME; UNIPARENTAL DISOMY; YOUNG ADULT; ADOLESCENT; BODY MASS; BODY WEIGHT; CHROMOSOME DISORDERS; COHORT ANALYSIS; GENETICS; HAND; INFANT; PATHOLOGY; PRESCHOOL CHILD; SYNDROME;

ADOLESCENT; ADULT; BIRTH WEIGHT; BODY HEIGHT; BODY MASS INDEX; BODY WEIGHT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 14; COHORT STUDIES; FEMALE; HAND; HUMANS; INFANT; MALE; SYNDROME;

EID: 84905570348     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102396     Document Type: Article

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