rubinstein taybi syndrome

نتایج جستجو برای: rubinstein taybi syndrome

تعداد نتایج: 622694 فیلتر نتایج به سال:

Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population.

Journal: :Journal of medical genetics 1997

R Wallerstein C E Anderson B Hay P Gupta L Gibas K Ansari F S Cowchock V Weinblatt C Reid A Levitas L Jackson

Rubinstein-Taybi syndrome (RTS) is a well delineated multiple congenital anomaly syndrome characterised by mental retardation, broad thumbs and toes, short stature, and specific facial features. The recent localisation of the disorder to 16p13.3 and subsequent identification of a submicroscopic deletion of this region in RTS patients led us to screen a large cohort of affected subjects using th...

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Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population.

Paraovarian Cyst Torsion in a Patient with Rubinstein-Taybi Syndrome: A Case Report

Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome

Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report

Oro-Facio-Dental Findings of Rubinstein-Taybi Syndrome as a Useful Diagnostic Feature

Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome

Rubinstein–Taybi Syndrome in a Male Child: Unusual Manifestations of a Rare Disease

Images in Anesthesia: Congenital tracheal stenosis in a boy with Rubinstein-Taybi syndrome

Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome

Dental Extraction Under Deep Sedation in a Patient with Rubinstein-Taybi Syndrome: Case Report