Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome

Author:

Shawky Rabah M.,Elsayed Nermine S.,Seifeldin Neveen S.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical)

Reference28 articles.

1. Broad thumbs-hallux (Rubinstein-Taybi) syndrome 1957–1988;Rubinstein;Am J Med Genet Suppl,1990

2. Etiology and recurrence risk in Rubinstein-Taybi syndrome;Hennekam;Am J Med Genet Suppl,1990

3. Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive and X-linked phenotypes;McKusick,1986

4. Leuridan Cavalcante Torres, Maria de Lourdes Lopes Chauffaille, Thomaz Pileggi Delboni, Thelma Suely Okay, Magda Carneiro-Sampaio, Sofia Sugayama. Rubinstein-Taybi Syndrome: A female patient with a denovo reciprocal translocation t(2;16) (q36.3; p13.3) and Dysgranu-lopoiesis. Clinics (Sao Paulo) 2010, 65(1): 107–9.

5. Rubinstein-Taybi syndrome: a natural history study;Stevens;Am J Med Genet Suppl,1990

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