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Journals and Conferences
Autosomal recessive primary microcephaly is a potential model in which to research genes involved in human brain growth. We show that two forms of the disorder result from homozygous mutations in the… (More)
Ellis-van Creveld syndrome (EvC) is an autosomal recessive skeletal dysplasia. Elsewhere, we described mutations in EVC in patients with this condition (Ruiz-Perez et al. 2000). We now report that… (More)
Waardenburg syndrome (WS) type 1 is an autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary abnormalities of the eye, hair, and skin, and dystopia canthorum. The… (More)
Four siblings with the autosomal recessive Roberts syndrome are reported, and we discuss the phenotypic overlap of this syndrome with other similar radial, aplasia syndromes.
Congenital Syphilis (SC) is an infection with serious consequences that increased in recent decades in Brazil. Aim: To analyze the socio-demographic and obstetrics profiles among women with new-born… (More)
Correspondence to: Angélica Vieira Cavalcanti de Sousa – Rua Eletricista Elias Ferreira, 2600, apto. 901C, Natture Condomínio Club, Candelária – CEP 59066-050 – Natal (RN), Brazil – E-mail:… (More)
An inbred kindred showing four cases of autosomal recessive clinical anophthalmia is reported. No association with other congenital malformations or mental retardation was observed.
van den Ende-Gupta syndrome is characterized by craniofacial and skeletal manifestations, mainly malar and/or maxillary hypoplasia, blepharophimosis, distinctive nose, lower lip eversion,… (More)