Results 161 to 170 of about 491,700 (340)
De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Liprin‐α2, encoded by PPFIA2, belongs to the family of Liprin‐α proteins which constitute major synaptic scaffolds participating in the assembly and maturation of synapses. Heterozygous de novo variants in PPFIA2 were identified by exome or genome sequencing in two unrelated individuals with a neurodevelopmental disorder.
Theresa Brunet +11 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips +8 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen +10 more
wiley +1 more source
Application of high resolution computed tomography image assisted classification model of middle ear diseases based on 3D-convolutional neural network. [PDF]
Zhong Nan Da Xue Xue Bao Yi Xue Ban, 2022 Su R +6 more
europepmc +1 more source
A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds +5 more
wiley +1 more source
Book Review: Neurology of Ear, Nose and Throat Diseases [PDF]
, 1973 C J Earl
openalex +1 more source
De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil +8 more
wiley +1 more source
A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Hereditary nonsyndromic hearing loss (NSHL) is a prevalent entity associated with over 150 known causative genes, including LMX1A, which has fewer than 10 reported pathogenic variants. Here we present a novel missense variant in LMX1A in a family of European descent with hereditary hearing loss. Clinical and family histories were obtained, and
Ryan Chen +3 more
wiley +1 more source