Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT This case report describes a child with hypomyelinating leukodystrophy type 20 (HLD20), a rare neurodegenerative disorder characterized by impaired myelin formation. The patient presented with multiple neurodevelopmental abnormalities, including delayed motor milestones, seizures, and abnormal facial features.
Malak Alghamdi +7 more
wiley +1 more source
Whole-Exome Sequencing Study of Thyrotropin-Secreting Pituitary Adenomas [PDF]
, 2018 学位記番号 ...
Santosh, Sapkota +2 more
core
Modeling Read Counts for CNV Detection in Exome Sequencing Data [PDF]
, 2011 Michael I. Love +5 more
openalex +1 more source
Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti +12 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione +12 more
wiley +1 more source
Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses
Prenatal DiagnosisAbstractObjectiveThis study aimed to assess the detection rate of clinically significant results of prenatal exome sequencing (pES) in low‐risk pregnancies and apparently normal fetuses in non‐consanguineous couples.MethodsA retrospective analysis of pES conducted at a single center from January 2020 to September 2023 was performed.
Michal Levy +9 more
openaire +2 more sources
A targeted gene panel that covers coding, non-coding and short tandem repeat regions improves the diagnosis of patients with neurodegenerative diseases [PDF]
, 2019 Genetic testing for neurodegenerative diseases (NDs) is highly challenging because of genetic heterogeneity and overlapping manifestations. Targeted-gene panels (TGPs), coupled with next-generation sequencing (NGS), can facilitate the profiling of a ...
Au, Wing Chi +11 more
core +1 more source
Exome sequencing supports a de novo mutational paradigm for schizophrenia [PDF]
, 2011 Bin Xu +7 more
openalex +1 more source
Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa +2 more
wiley +1 more source
Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV [PDF]
, 2011 J. Fah Sathirapongsasuti +7 more
openalex +1 more source