Centre for medical Genetics

Centre for medical Genetics Our aim is early Molecular Genetic Diagnosis to aid evidence based medical practice. We offer geneti

Authored a paper: A rare co-occurrence of Williams syndrome with TNK2 gene- related epilepsyRarely two different genetic...
03/10/2024

Authored a paper: A rare co-occurrence of Williams syndrome with TNK2 gene- related epilepsy
Rarely two different genetic syndromes can co-exist in a patient,
https://www.cureus.com/articles/301576-a-rare-co-occurrence-of-williams-syndrome-and-2-gene-related-epilepsy #!/.

Williams syndrome is a multisystem disorder characterized by developmental delay, characteristic facial features, growth abnormalities, and cardiovascular abnormalities. The disorder is an autosomal dominant genetic syndrome that occurs due to microdeletion at chromosomal locus 7q11.23. Seizures occ...

Co-authored a paper on HLH
20/09/2024

Co-authored a paper on HLH

Hemophagocytic lymphohistiocytosis (HLH) is a multisystem involvement, hyperinflammatory state with rapid progression and a poor outcome. However, HLH may rarely present with signs and symptoms isolated to the central nervous system (CNS). Thus, we discuss this case, which presented with CNS symptom...

Happy Onam to everyone, Thank you Shilpa Mithbawkar for the delicious Onasadhya
15/09/2024

Happy Onam to everyone, Thank you Shilpa Mithbawkar for the delicious Onasadhya

Our latest review article on genetics of ovarian insufficiency.. take a look..
26/06/2024

Our latest review article on genetics of ovarian insufficiency.. take a look..

Genetics of Premature Ovarian Insufficiency

Delivered lecture on Basics in Genetics, on occasion of Down syndrome Day. on invitation from Indian Academy of Pediatri...
23/03/2024

Delivered lecture on Basics in Genetics, on occasion of Down syndrome Day. on invitation from Indian Academy of Pediatrics, Nanded branch, Dr Suhas Bendrikar

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