Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

Journal of Medical Genetics

Volumn 39, Issue 8, 2002, Pages 594-596

  Faivre, L ^a   Cormier Daire, V ^a   Lapierre, J M ^a   Colleaux, L ^a   Jacquemont, S ^a   Genevieve D ^a   Saunier, P ^b   Munnich, A ^a   Turleau, C ^a   Romana, S ^a   Prieur, M ^a   De Blois, M C ^a   Vekemans, M ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b Centre Hospitalier Fontainebleau   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 6Q; CLINICAL EXAMINATION; GENE; GENE DELETION; HUMAN; MALE; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; SIM1 GENE; SYNDROME DELINEATION;

EID: 18444412266     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.39.8.594     Document Type: Article

References (14)

1. New insights into the phenotypes of 6q deletion
2. 6q1 monosomy: A distinctive syndrome
3. A de novo interstitial deletion 6q16.2q21 on chromosome 6
4. Interstitial 6q deletion and Prader-Willi-like phenotype
5. Interstitial 6q deletion with a Prader-Willi-like phenotype: A new case and review of the literature
6. Profound obesity associated with a balanced translocation that disrupts the SIM1 gene
7. Development of neuroendocrine lineages requires the bHLH-PAS transcription factor SIM1
8. Localization of the melanocortin-4 receptor (MC4-R) in neuroendocrine and autonomic control circuits in the brain
9. Interacting appetite-regulating pathways in the hypothalamic regulation of body weight
10. Distal deletion of the long arm of chromosome 6: A specific phenotype?
11. Syndromal obesity due to paternal duplication 6(q24.3-q27)
12. Familial complex chromosomal rearrangement resulting in duplication/deletion of 6q14 to 6q16
13. Major locus for fasting insulin concentrations and insulin resistance on chromosome 6q with strong pleiotropic effects on obesity-related phenotype in nondiabetic Mexican Americans
14. An imprinted locus associated with transient neonatal diabetes mellitus