An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1 by Samira Kalayinia, Saeed Talebi, Mohammad Miryounesi, Peymaneh Sarkhail, Nejat Mahdieh

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Pancreatitis as a Main Consequence of APOC2-Related Hypertriglyceridemia: The Role of Nonsense and Frameshift Variants by Bahareh Rabbani, Mohadeseh Aghli Moghadam, Shiva Esmaeili, Amirhassan Rabbani, Bahman Akbari, Nejat Mahdieh

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Expanding the Phenotype of Congenital Glucocorticoid Deficiency: An Iranian Patient with Cholestasis due to Pathogenic Variants in the MC2R Gene by Shohreh Maleknejad, Setila Dalili, Ameneh Sharifi, Afagh Hassanzadeh Rad, Reza Bayat, Bahareh Rabbani, Nejat Mahdieh

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p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature Pubarche by Mahdieh Soveizi, Nejat Mahdieh, Aria Setoodeh, Fatemeh Sayarifard, Farzaneh Abbasi, Himangshu S. Bose, Bahareh Rabbani, Ali Rabbani

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Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene by Setila Dalili, Nasrin Sedighi Pirsaraei, Ameneh Sharifi, Alireza Pouryousef, Fatemeh Aghaee, Reza Bayat, Babak Ghavami, Bahareh Rabbani, Nejat Mahdieh

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