Results 91 to 100 of about 5,330 (203)
Behavioral Sciences, 2018 Reports suggest comorbidity between autism spectrum disorder (ASD) and the connective tissue disorder, Ehlers-Danlos syndrome (EDS). People with EDS and the broader spectrum of Generalized Joint Hypermobility (GJH) often present with immune- and ...
Emily L. Casanova +4 more
doaj +1 more source
The novel missense mutation Met48Lys in FKBP22 changes its structure and functions. [PDF]
, 2020 Mutations in the FKBP14 gene encoding FKBP22 (FK506 Binding Protein 22 kDa) cause kyphoscoliotic Ehlers-Danlos Syndrome (kEDS). The first clinical report showed that a lack of FKBP22 protein due to mutations causing nonsense-mediated decay of the mRNA ...
Bächinger, Hans Peter +7 more
core
Connective tissue anomalies in patients with spontaneous cervical artery dissection. [PDF]
, 2014 OBJECTIVE: To investigate the prevalence of connective tissue abnormalities in patients with spontaneous cervical artery dissections (sCeAD). METHODS: We systematically assessed clinically detectable signs of connective tissue aberration in a series of ...
A. Giossi +19 more
core +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1021-1035, May 2026.ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan +4 more
wiley +1 more source
International guidelines for the management and treatment of Morquio A syndrome. [PDF]
, 2014 Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired ...
Berger, Kenneth I +8 more
core +2 more sources
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review [PDF]
, 2016 FKBP14-related Ehlers-Danlos syndrome (EDS) is an extremely rare recessive connective tissue disorder described for the first time in 2012 by Baumann and coworkers.
Aldeeri +7 more
core +1 more source
Neurogastroenterology &Motility, Volume 38, Issue 5, May 2026.ABSTRACT Background Disorders of Gut‐Brain Interaction (DGBI) impact as many as one in three individuals at some stage of their lives. Clinically, patients with DGBI may present with meal‐related symptoms that progressively lead to altered food intake behaviors, resulting in subsequent weight loss and nutritional deficiencies.
Ayesha Shah +24 more
wiley +1 more source
Pediatric Blood &Cancer, Volume 73, Issue 4, April 2026.ABSTRACT Macrocephaly capillary malformation syndrome (M‐CM or MCAP) is a rare overgrowth disorder characterized by primary megalencephaly, overgrowth, and a range of additional anomalies. This report presents findings from a survey of 101 caregivers or individuals with M‐CM, collected by the M‐CM Network.
Melanie Bryan +7 more
wiley +1 more source
Genetic Diagnosis and Discovery Enabled by Large Language Models
Advanced Science, Volume 13, Issue 22, 17 April 2026.We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu +25 more
wiley +1 more source