نتایج جستجو برای: autosomal

تعداد نتایج: 32291  

A Azarfar Ag Keykhosravi MA Kiani Y Ravanshad

Congenital Hepatic Fibrosis (CHF) is a rare disease that affects both the liver and kidneys.  Congenital hepatic fibrosis (CHF) is an autosomal recessive inherited malformation defined pathologically by a variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts. Affected individuals also have impaired renal function, usually caused, in children and teenagers, by an...

Journal: :Indian Journal of Child Health 2021

Journal: :European Journal of Human Genetics 2009

Journal: :Clinical pediatrics and research 2022

Apert Syndrome is a rare genetic disorder that presents with craniosynostosis, syndactyly and midface retrusion dysostosis as well many other anomalies. an autosomal dominant syndrome equally in males females has occurrence rate of 1 every 65,000.

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