Congenital diaphragmatic hernia in Lowe syndrome: a rare association?
Race
Hermione J
HJ
North West London Regional Genetics Centre (Kennedy-Galton Centre), North West, London Hospitals NHS Trust, Harrow West Middlesex University Hospital, Isleworth, Middlesex, UK.
Elhadi
Nour
N
Holder
Susan E
SE
D002648:Child; D006548:Hernia, Diaphragmatic / Q000150:complications; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D008297:Male; D009154:Mutation; D009800:Oculocerebrorenal Syndrome / Q000150:complications* / Q000235:genetics; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics
D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human
Holder AM, Klassens M, Tibboel D, De Klein A, Lee B, Scott DA 2007. Genetic factors in congenital diaphragmatic hernia. Am J Hum Genet 80:825–845.
Lowe M 2005. Structure and function of the Lowe syndrome protein OCRL1. Traffic 6:711–719.
Lowe CU, Mary Terrey M, MacLachlan EA 1952. Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity. Am J Dis Child 83:164–184.
Sonmez F, Temocýn AK, Ozkan SB, Akçanal B, Karaman CZ, Turkmen M, Inan G 2003. Lowe syndrome with anal atresia: a possible variant of OCRL? Pediatr Int 45:201–204.
Suchy SF, Nussbaum RL 2002. The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization. Am J Hum Genet 71:1420–1427.