Sommayya Aftab

6PUBLICATIONS
6CO-AUTHORS
Foetal development and medicineCancer therapy (excl. chemotherapy and radiation therapy)Adolescent healthAutoimmunityMedical infection agents (incl. prions)
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Publications (6)

|May 05, 2025
Aromatase deficiency due to novel <i>CYP19A1</i> mutation: a rare cause of maternal and fetal virilization.

Aamir Naseem, Muhammad Zahid, Kashan Arshad

|Apr 12, 2025
Vitamin D dependent rickets type 2A: a case series of two siblings with novel mutation in vitamin D receptor gene responded to high dose oral calcium and calcitriol.

Noor-Ul-Ain Mehak, Sommayya Aftab, Abid Ali Qureshi

|Aug 21, 2024
Diabetes and <i>CFAP126 gene</i> mutation; are they really linked together?

Kashan Arshad, Aamir Naseem, Syed Saddam Hussain

|Dec 16, 2022
Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by <i>CYP27B1</i> mutation in resource limited countries.

Sommayya Aftab, Sabeen Abid Khan, Munir Iqbal Malik

|Sep 15, 2022
Management challenges of Rabson Mendenhall syndrome in a resource limited country: a case report.

Sommayya Aftab, Tahir Shaheen, Rameen Asif

|Aug 11, 2022
Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1.

Sommayya Aftab, Diliara Gubaeva, Jayne A L Houghton

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