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Last Updated: 10/31/2025
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Found 50 publications
Progeroid features in a patient with Malouf syndrome due to a rare LMNA variant: a case report and review of the literature.
Journal: Archives of endocrinology and metabolism
Published: July 24, 2025
The Quiet Burden of Iron: A Rare Case of Hereditary Hemochromatosis in Pakistan.
Journal: Cureus
Published: July 19, 2025
Possible consequences of the abuse of anabolic steroids on different organs of athletes.
Journal: Archives of physiology and biochemistry
Published: February 03, 2025
Frequency of Delayed Puberty in Boys with Contemporary Management of Duchenne Muscular Dystrophy
Journal: Journal of clinical research in pediatric endocrinology
Published: June 25, 2024
A case report of non-lamin A/C dilated cardiomyopathy presenting in a patient with Najjar-Malouf syndrome.
Journal: European heart journal. Case reports
Published: March 04, 2024
Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature.
Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Published: February 22, 2023
Early-Onset Diabetes Mellitus in Chromosome 8p11.2 Deletion Syndrome Combined With Becker Muscular Dystrophy - A Case Report.
Journal: Frontiers in endocrinology
Published: April 07, 2022
A 3-Year-Old Boy with an Xp21 Deletion Syndrome: A Case Report.
Journal: Endocrine, metabolic & immune disorders drug targets
Published: September 05, 2021
Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes.
Journal: Molecular genetics & genomic medicine
Published: January 07, 2021
A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report.
Journal: BMC endocrine disorders
Published: December 24, 2020
A symptomatic male carrier of Duchenne muscular dystrophy with Klinefelter's syndrome mimicking Becker muscular dystrophy.
Journal: Neuromuscular disorders : NMD
Published: August 30, 2020
Complex Glycerol Kinase Deficiency (Xp21 Deletion Syndrome): A Case Report of a Contiguous Gene Disorder Necessitating Creative Anesthetic Planning.
Journal: A&A practice
Published: August 27, 2020
Last Updated: 10/31/2025