Results 111 to 120 of about 12,963 (286)
American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong +16 more
wiley +1 more source
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons [PDF]
, 2015 Miles-Carpenter syndrome (MCS) was described in 1991 as an XLID syndrome with fingertip arches and contractures and mapped to proximal Xq. Patients had microcephaly, short stature, mild spasticity, thoracic scoliosis, hyperextendable MCP joints, rocker ...
Alexov, E. (Emil) +24 more
core +1 more source
Stimulus and response AC/A ratios in intermittent exotropia of the divergence-excess type. [PDF]
, 1982 Jeffrey Cooper +2 more
openalex +1 more source
Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy
American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz +3 more
wiley +1 more source
Ocular Problems in Triple-A Syndrome and Their Management
Türk Oftalmoloji Dergisi, 2012 Triple-A syndrome (Allgrove syndrome), is a rare autosomal recessive syndrome that is characterized by adrenal insufficiency, alacrimia and achalasia.
Seydi Okumuş +6 more
doaj +1 more source
Variability of fusion vergence measurements in heterophoria [PDF]
, 2016 Purpose: The aims of this study were to compare fusional vergence measurements between orthophoria, esophoria, and exophoria, and to determine the strength of correlations between fusional convergence and divergence and angle of deviation.
Costa Lança, C, Rowe, FJ
core +1 more source
Clinical Case Reports, Volume 13, Issue 10, October 2025.ABSTRACT Recurrent U2AF2 c.445C>T variant in two cases with systemic dysmorphism, epilepsy, and neurodevelopmental regression suggests a novel spliceosomal gene‐brain disorder link, warranting U2AF2 screening in unexplained neurodevelopmental cases.
Shiqin Huang +6 more
wiley +1 more source
The outcome of strabismus surgery in childhood exotropia [PDF]
, 1994 J M Keenan, H E Willshaw
openalex +1 more source
Marine mammal recovery is associated with the resurgence of a nematode parasite
Ecology, Volume 106, Issue 10, October 2025.Abstract As the oceans change, the abundance of parasites and the risk of infection to marine mammals may also be changing. Nematodes in the family Anisakidae can harm marine mammals, and recent studies have revealed a global increase in these parasites, but the cause is unknown.
Natalie C. Mastick +7 more
wiley +1 more source