نتایج جستجو برای: rubinstein taybi syndrome

تعداد نتایج: 622694  

Journal: :American journal of medical genetics. Part A 2013
Sérgio B Sousa Margarida Venâncio Estelle Chanudet Rodger Palmer Lina Ramos Philip L Beales Gudrun E Moore Jorge M Saraiva Raoul C Hennekam

Here we report on a Portuguese family with three sisters who shared moderate intellectual disability, unusual facial morphology (short palpebral fissures; broad nasal tip; thin upper and lower vermillion; broad and pointed chin) and hand anomalies in two of them (short left third and fifth right metacarpals in one case; marked syndactyly between the third and fourth fingers in another). One of ...

Journal: :Journal of the history of sexuality 2012
Tori Brennan Peter Hegarty

The concept of bisexuality has suffered from the same dilemma as that Of reality. So much has been said and assumed about both, that the words symbolizing them have become more and more mechanically used, and therefore misused. At the December 2006 conference of the Lesbian and gay Psychology Section of the British Psychological Society, bisexual activist and academic Ron Fox (who is currently ...

Journal: :Blood 1997
T Taki M Sako M Tsuchida Y Hayashi

The recurrent translocation t(11;16)(q23;p13) has been reported to be associated with therapy-related acute leukemia. The MLL gene involved in other 11q23 abnormalities was also rearranged by this translocation. We analyzed two patients with myelodysplastic syndrome with t(11;16) and showed that the MLL gene on 11q23 was fused with CREB-binding protein (CBP) gene on 16p13 in these patients. The...

Journal: :Journal of clinical and diagnostic research : JCDR 2014
R Ebru Tirali Cagla Sar S Burcak Cehreli

Rubinstein-Taybi Syndrome (RTS) is a rare multiple congenital syndrome characterized by distinctive facial features, mental and growth retardation, broad thumbs and great toes. This case report describes the oro-dental manifestations, as well as, orthodontic evaluation of a 9-year-old male patient who had RTS. The remarkable oro-dental features were talon-like cingulum on maxillary central inci...

Journal: :Arquivos de Neuro-Psiquiatria 1975

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