6 documents found, page 1 of 1
Wieacker-Wolff syndrome - A rare X-linked hereditary disorder
Dias,João Faria; Martins,Cecília; Soares,Ana Rita; Gonçalves-Rocha,Alexandra M; Rocha,FelisbelaAbstract Wieacker-Wolff syndrome (WWS) is an X-linked disorder caused by a pathogenic mutation in the ZC4H2 gene. It affects both the central and peripheral nervous systems. The authors describe the case of a six-year-old boy with global developmental delay since the age of four months, with marked axial hypotonia. He had a history of bilateral clubfoot, feeding difficulties, and recurrent respiratory infection...
Bioética na genética: entre a ciência e a arte
Soares,Ana Rita; Carvalho,Ana Sofia
Ultrasound relevance in prenatal diagnosis of vacterl association - two clinica...
Félix,Joana; Barros,Joana Moreira; Soares,Ana Rita; Soares,Fátima; Nogueira,Rosete; Silva,Pedro TiagoVATER is a nonrandom association of congenital defects with common developmental pathogenesis including/which includes malformations like vertebral defects, anal atresia or imperforate anus, tracheoesophageal fistula with esophageal atresia, and radial or renal dysplasia. VATER acronym was initially used to describe this association, but other malformations, like cardiac defects and limb anomalies, were later a...
Fabry disease in portugal: insights from the male patients
Soares,Ana Rita; Laranjeira,Francisco; Caseiro,Carla; Ribeiro,Isaura; Silva,Elisabete; Pinto,Eugénia; Ferreira,Célia; Rocha,Sónia; Fortuna,Ana
Síndrome de deleção 22q11.2: diagnóstico em idade adulta - experiência do Centr...
Tkachenko,Natália; Soares,Gabriela; Sá,Maria João; Soares,Ana Rita; Fortuna,Ana Maria
MX-linked centronuclear myopathy: from clinical diagnosis to genetic counseling
Sá,Maria João; Soares,Ana Rita; Soares,Gabriela; Fortuna,Ana Maria; Taipa,Ricardo; Pires,Manuel Melo; Oliveira,Jorge; Santos,Rosário; Santos,Manuela