Ataxia with oculomotor apraxia type 2 due to the new compound heterozygous variants c.5825T>C (inherited) and c.6106+1G>T (de novo) in SETX. [PDF]
Clinics (Sao Paulo)Fiorini AC +3 more
europepmc +1 more source
Clinical Experience With Eliglustat in Children With Gaucher Disease Type 1
American Journal of Medical Genetics Part A, EarlyView.
Erika R. Vucko +6 more
wiley +1 more source
Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi +10 more
wiley +1 more source
Clinical phenotype and GNPTAB gene mutation spectrum analysis of Chinese patients with mucolipidosis type II α/β. [PDF]
Front Med (Lausanne)Gan X, Li J, Cao J.
europepmc +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr +7 more
wiley +1 more source
Compound Heterozygous PCDH15 Variants Associated With Cone-Rod Dystrophy in a Chinese Pedigree. [PDF]
Mol Genet Genomic MedZhang L +7 more
europepmc +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
A Novel GDF2 Mutation in a Patient With Hereditary Hemorrhagic Telangiectasia Complicated by Acute Cerebral Infarction. [PDF]
EJHaemZuo H +9 more
europepmc +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Chronic rhinosinusitis is common in people with cystic fibrosis (PwCF). Highly effective modulator therapy (HEMT) has been shown to improve sinonasal outcomes. However, prior studies failed to show improvement in objective olfaction with HEMT, and the impact of HEMT on olfactory‐specific quality of life has yet to be studied ...
Michael R. Xiang +11 more
wiley +1 more source
Abnormally Low Hemoglobin A1c Due to a Heterozygous Alpha-Globin Variant (Hb I; HBA2 c.49A>G, p.Lys17Glu) in a Geriatric Patient. [PDF]
CureusMoshiri KA, Mahmodian M.
europepmc +1 more source