نتایج جستجو برای: link recessive

تعداد نتایج: 212740  

Journal: :Developmental Medicine & Child Neurology 2016

Journal: :Indian Journal of Child Health 2021

Journal: :European Journal of Human Genetics 2009

Journal: :medical journal of islamic republic of iran 0
h pour-jafari from the departments o.f*genetics sciences. hamadan. i.r. iran. a sarihi

congenital cutis laxa is an exceptional condition. no large scale pedigree has been reported from iran. we report a family with 106 members with two members affected with cutis laxa. our cases were two patients (male and female) with pre- and postnatal growth retardation, cutis laxa, characteristic facies and other manifestations which proved that they were affected with cutis laxa. their famil...

Journal: :Journal of medical genetics 1977
K Fried D Krakowsky

A probable autosomal recessive mode of inheritance is described in a family with two affected sisters. The sisters showed the typical picture of Marfan syndrome and were of normal intelligence. Both parents and all four grandparents were personally examined and found to be normal. Homocystinuria was ruled out on repeated examinations. This family suggests genetic heterogeneity in Marfan syndrom...

2014
Sajad Ahmad Salati

A 25-year-old pregnant female reported at 28 weeks of gestation with non specific abdominal pain. On evaluation, the ultra-sonogram revealed a single live fetus in breech presentation. Placenta was anterior and high and there was severe oligohydramnios. Both fetal kidneys were enlarged in size (occupying most of the abdominal cavity) and homogenously hyperechoic & studded with numerous variable...

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