Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features

American Journal of Medical Genetics, Part A

Volumn 161, Issue 12, 2013, Pages 3137-3143

  Izumi, Kosuke ^a   Housam, Ryan ^a   Kapadia, Chirag ^b   Stallings, Virginia A ^a,c   Medne, Livija ^a   Shaikh, Tamim H ^d   Kublaoui, Bassil M ^a,c   Zackai, Elaine H ^a,c   Grimberg, Adda ^a,c  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b PHOENIX CHILDREN'S HOSPITAL   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d Children's Hospital Colorado   (United States)

Author keywords

Hypopituitarism; Hypothyroidism; POU3F2; SIM1

Indexed keywords

GROWTH HORMONE; LEVOTHYROXINE; THYROXINE;

6Q16.1-Q21 DELETION; ABDOMINAL OBESITY; ARTICLE; CASE REPORT; CHILD; CHROMOSOME DELETION; CLINICAL FEATURE; COGNITIVE DEVELOPMENT; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; DNA ISOLATION; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GENE; GROWTH DISORDER; GROWTH HORMONE DEFICIENCY; HETEROZYGOSITY; HUMAN; HYPOPITUITARISM; HYPOTHYROIDISM; MALE; MICROARRAY ANALYSIS; MUSCLE HYPOTONIA; OSMOLALITY; PHENOTYPE; POLYURIA; PRADER WILLI LIKE SYNDROME; PRADER WILLI SYNDROME; PRIORITY JOURNAL; PUBERTY; SCHOOL CHILD; SIM1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTHERN BLOTTING;

HYPOPITUITARISM; HYPOTHYROIDISM; POU3F2; SIM1;

ADOLESCENT; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; ENDOCRINE SYSTEM; HAPLOINSUFFICIENCY; HUMANS; HYPOTHYROIDISM; INFANT; MALE; OBESITY; PRADER-WILLI SYNDROME; REPRESSOR PROTEINS;

EID: 84888023304     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36149     Document Type: Article

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