Article
Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.
American journal of medical genetics. Part A - 1 Dec 2020
Zaki Maha S, Otaify Ghada A, Ismail Samira, Issa Mahmoud Y, El-Ruby Mona O, Sadek Abdelrahim A, Ashaat Engy A, El Saeidi Sonia A, Aglan Mona S, Temtamy Samia, Abdel-Hamid Mohamed S
Abstract excerpt
Blepharophimosis-ptosis-intellectual disability syndrome (BPID) is an extremely rare recognizable blepharophimosis intellectual disability syndrome (BID). It is caused by biallelic variants in the UBE3B gene with only 24 patients described worldwide. Herein, we report on the clinical, brain imaging and molecular findings of additional nine patients from six unrelated Egyptian families. Patients presented with the...
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