Search Results - "AlMijmaj, Faten"

A Novel Mutation of the CYP11B2 in a Saudi Infant with Primary Hypoaldosteronism by Almijmaj, Faten, Alquaiz, Rawan, Alfaifi, Abrar, Alfaraidi, Lama, Mawlawi, Horia

“…Isolated hypoaldosteronism is a rare autosomal recessive disease presenting with severe salt wasting and failure to thrive in infancy. A 6-month-old Saudi girl…”
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A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism by Rubaya, Khloud, AlMijmaj, Faten, AlAnzi, Talal, AlJasser, Abdullah

“…Background: Isolated hypoparathyroidism comprises a set of heterogeneous inherited diseases associated with abnormal calcium metabolism exclusively due to…”
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A Novel Homozygous Frameshift Mutation in Exon 2 of LEP Gene Associated with Severe Obesity: A Case Report by Altawil, Ashwaq Shukri, Mawlawi, Horia Ahmad, Alghamdi, Khalid Ateeq, Almijmaj, Faten Fohaid

“…Background: Monogenic obesity is a rare type of obesity caused by a mutation in a single gene. Patients with monogenic obesity may develop early onset of…”
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A Novel Mutation of the CYP11B2 in a Saudi Infant with Primary Hypoaldosteronism by Alfaraidi, Lama, Alfaifi, Abrar, Alquaiz, Rawan, Almijmaj, Faten, Mawlawi, Horia

“…Isolated hypoaldosteronism is a rare autosomal recessive disease presenting with severe salt wasting and failure to thrive in infancy. A 6-month-old Saudi girl…”
Get full text

A Novel Homozygous Frameshift Mutation in Exon 2 of LEP Gene Associated with Severe Obesity: A Case Report by Altawil, Ashwaq Shukri, Mawlawi, Horia Ahmad, Alghamdi, Khalid Ateeq, Almijmaj, Faten Fohaid

“…BACKGROUNDMonogenic obesity is a rare type of obesity caused by a mutation in a single gene. Patients with monogenic obesity may develop early onset of obesity…”
Get full text