MCM9 compound heterozygosity in an adolescent with premature ovarian insufficiency [PDF]
Endocrinology, Diabetes & Metabolism Case ReportsDelayed puberty in girls is often related to late maturation but is occasionally the first sign of premature ovarian insufficiency (POI). POI is a condition that affects ovarian function and fertility, and its etiology is unknown in most cases.
Elise Nauwynck +10 more
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Compound heterozygosity for Hb S and Hb S-Oman : Case report
Sultan Qaboos University Medical Journal, 2008 The haematological and clinical findings of a three year old Omani girl, phenotypically compound heterozygote for Hb S and Hb S Oman, are presented, further substantiated by family studies. The necessity of reviewing cases with sickle cell haemoglobin in
Suresh Venugopal +4 more
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Compound heterozygosity in sodium channel Nav1.7 in a family with hereditary erythermalgia [PDF]
Molecular Pain, 2008 Hereditary erythermalgia is a painful and debilitating genetic disorder associated with mutations in voltage-gated sodium channel Nav1.7. We have previously reported a Canadian family segregating erythermalgia consistently with a dominant genetic ...
Lynch Mary E +3 more
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Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies [PDF]
Epilepsy and Behavior Case Reports, 2019 PRRT2 pathogenic variants have been described in benign familial infantile epilepsy, episodic ataxia, paroxysmal kinesigenic dyskinesia, and hemiplegic migraines.We describe a patient with compound heterozygous variants, infantile epilepsy with status ...
Christelle Moufawad El Achkar +4 more
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The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants [PDF]
BMC PediatricsNUDT2 is an enzyme important for maintaining the intracellular level of the diadenosine tetraphosphate (Ap4A). Bi-allelic loss of function variants in NUDT2 has recently been reported as a rare cause of intellectual disability (ID). Herein, we describe a
Bo Bi +6 more
doaj +4 more sources
Leptin Receptor Compound Heterozygosity in Humans and Animal Models. [PDF]
Int J Mol Sci, 2021 Leptin and its receptor are essential for regulating food intake, energy expenditure, glucose homeostasis and fertility. Mutations within leptin or the leptin receptor cause early-onset obesity and hyperphagia, as described in human and animal models.
Berger C, Klöting N.
europepmc +6 more sources
HbD Punjab/HbQ India compound heterozygosity: An unusual association.
Mediterranean Journal of Hematology and Infectious Diseases, 2014 Background: Haemoglobinopathies are the commonest hereditary disorders in India and pose a major health problem. Both beta thalassaemia and structural haemoglobin variants are relatively common in north western India.
Stacy Colaco +5 more
doaj +3 more sources
Factor XIII deficiency due to compound heterozygosity for 2 F13A1 variants [PDF]
Research and Practice in Thrombosis and HaemostasisBackground: Factor (F)XIII deficiency is a rare bleeding disorder. Genomic studies, adjunctive to biochemical assays, can provide valuable diagnostic and clinical clarity.
Jodie Odame +8 more
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A novel ABCB11 variant in compound heterozygosity: BRIC2 or PFIC2? [PDF]
Gastroenterol Rep (Oxf), 2023 N ...
Biolato M +11 more
europepmc +4 more sources
Compound heterozygosity for hemoglobin D and hemoglobin E
Bangabandhu Sheikh Mujib Medical University Journal, 2016 We present two cases of compound heterozygous state for hemoglobin (Hb) D and HbE who reported to the hospital for fever and incidentally found moderate microcytic hypochromic anemia.
Mohammad Mizanur Rahman +4 more
doaj +3 more sources