Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome.
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Mutation update on the CHD7 gene involved in CHARGE syndromeThe 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patientsStructural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature.Brachydactyly E: isolated or as a feature of a syndromeX-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female.What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.
P2860
Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome.
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2009 nî lūn-bûn
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Two cases of deletion 2q37 ass ...... sdiagnosis of CHARGE syndrome.
@en
Two cases of deletion 2q37 ass ...... sdiagnosis of CHARGE syndrome.
@nl
type
label
Two cases of deletion 2q37 ass ...... sdiagnosis of CHARGE syndrome.
@en
Two cases of deletion 2q37 ass ...... sdiagnosis of CHARGE syndrome.
@nl
prefLabel
Two cases of deletion 2q37 ass ...... sdiagnosis of CHARGE syndrome.
@en
Two cases of deletion 2q37 ass ...... sdiagnosis of CHARGE syndrome.
@nl
P2093
P356
P1476
Two cases of deletion 2q37 ass ...... sdiagnosis of CHARGE syndrome.
@en
P2093
Cristina Martinez-Bouzas
Eduardo Fernández-Rebollo
Gustavo Pérez-Nanclares
Intza Garin
Jose Luis Ruibal
Maria Carmen Cotarelo-Pérez
Olga Pérez
P304
P356
10.1530/EJE-08-0865
P577
2009-04-01T00:00:00Z