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Cognitive and behavioral heterogeneity in genetic syndromes
(Soc Brasil PediatriaRio De Janeiro, RjBrasil, 2014)
Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia microphthalmia, and genitourinary anomalies: nosology of goltz-gorlin syndrome versus eec syndrome
(Wiley-Blackwell, 1992-02-01)
We report on two unrelated Brazilian girls born to normal and nonconsanguineous parents and presenting ectodermal dysplasia, ectrodactyly, clefting, tear duct anomalies, and micro/anophthalmia. The clinical picture presented ...
Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia microphthalmia, and genitourinary anomalies: nosology of goltz-gorlin syndrome versus eec syndrome
(Wiley-Blackwell, 1992-02-01)
We report on two unrelated Brazilian girls born to normal and nonconsanguineous parents and presenting ectodermal dysplasia, ectrodactyly, clefting, tear duct anomalies, and micro/anophthalmia. The clinical picture presented ...
Oral presentation of 10 patients with Cowden syndrome
(Elsevier Science IncNew YorkEUA, 2014)
Williams syndrome: Pediatric, neurologic, and cognitive development
(ELSEVIER SCIENCE INC, 2005)
This study examines the developmental history of 32 Williams syndrome patients, positive to the fluorescence in situ hybridization (FISH) test. The information is intended to provide help for early diagnosis and appropriate ...