Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism

Gelijkaardige items

• Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation
  door: Cormier-Daire, V., et al.
  Gepubliceerd in: (2000)
• A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation
  door: Genevieve, D, et al.
  Gepubliceerd in: (2004)
• Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients
  door: Vuillaumier-Barro..., S., et al.
  Gepubliceerd in: (2000)
• Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?
  door: Holder-Espinasse, M, et al.
  Gepubliceerd in: (2002)
• Dysmorphism, variable overgrowth, normal bone age, and severe developmental delay: a "Sotos-like" syndrome?
  door: Amiel, J, et al.
  Gepubliceerd in: (2002)