Obesity in pycnodysostosis due to UPD1: Possible effect of an imprinted gene on chromosome 1

American Journal of Medical Genetics, Part A

Volumn 155, Issue 6, 2011, Pages 1483-1486

  Bertola, Debora ^a   Aguena, Meire ^a   Yamamoto, Guilherme ^a   Ae Kim, Chong ^a   Passos Bueno, Maria Rita ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE PROTEINASE; LEPTIN;

ACROOSTEOLYSIS; ANTERIOR FONTANEL; BONE DYSPLASIA; CASE REPORT; CHILD; CHROMOSOME 1; CRANIOFACIAL SYNOSTOSIS; CSTK GENE; FATHER; FEMALE; FRACTURE; GENE; GENOME IMPRINTING; HETEROZYGOSITY; HUMAN; LETTER; MANDIBLE; MISSENSE MUTATION; OBESITY; OSTEOSCLEROSIS; PRIORITY JOURNAL; PYCNODYSOSTOSIS; SCHOOL CHILD; SHORT STATURE; UNIPARENTAL DISOMY;

EID: 79956192295     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33989     Document Type: Letter

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