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Journal of Pediatric Genetics


Journal of Pediatric Genetics


Issue 01 ·


Volume 04 ·


March 2015


DOI: 10.1055/s-005-29742





Review Article



009


Sweeney, Walter M.;

Lanier, Steve T.;

Purnell, Chad A.;

Gosain, Arun K.:


Genetics of Cleft Palate and Velopharyngeal Insufficiency



Original Article


017


Sgardioli, Ilária C.;

Vieira, Társis P.;

Simioni, Milena;

Monteiro, Fabíola P.;

Gil-da-Silva-Lopes, Vera L.:


22q11.2 Deletion Syndrome: Laboratory Diagnosis and

TBX1

and

FGF8

Mutation Screening



Case Report



029


Regala, Joana;

Cavaco, Branca;

Domingues, Rita;

Limbert, Catarina;

Lopes, Lurdes:


Novel Mutation in the

CASR

Gene (p.Leu123Ser) in a Case of Autosomal Dominant Hypocalcemia