Síndrome Axenfeld-Rieger: presentación de un caso
Flores Pérez, Daysi; Labrada Rodríguez, Yunia H; González Leyva, Migdalis.
Rev. cuba. oftalmol
; 13(1): 16-9, ene.-jun. 2000. ilus
Artigo em Espanhol | CUMED | ID: cum-21011
Documentos relacionados
Cryptophthalmos, dental anomalies, oral vestibule defect, and a novel FREM2 mutation.
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.
MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma.
Identification and functional study of FOXC1 variants in Chinese families with glaucoma.
De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype.
Molar morphology and the expression of Carabelli's trait in 45,X females.
Analyses of a novel L130F missense mutation in FOXC1.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis.
[Morphology, family history, and age at diagnosis of 26 patients with Axenfeld-Rieger syndrome and glaucoma or ocular hypertension].