Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen

by Zuhier Ahmed Awan, Zuhier Ahmed Awan, Omran M. Rashidi, Omran M. Rashidi, Omran M. Rashidi, Bandar Ali Al-Shehri, Bandar Ali Al-Shehri, Kaiser Jamil, Ramu Elango, Ramu Elango, Jumana Y. Al-Aama, Jumana Y. Al-Aama, Robert A. Hegele, Babajan Banaganapalli, Babajan Banaganapalli, Noor A. Shaik, Noor A. Shaik
Published 2021-06-01

Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation

by Sami Raja Alallasi, Amal A. Kokandi, Babajan Banagnapali, Babajan Banagnapali, Noor Ahmad Shaik, Noor Ahmad Shaik, Bandar Ali Al-Shehri, Nuha Mohammad Alrayes, Jumana Yousuf Al-Aama, Jumana Yousuf Al-Aama, Musharraf Jelani, Musharraf Jelani
Published 2019-02-01