Results 71 to 80 of about 15,472 (207)
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
Frontiers in Pediatrics, 2020 CTNNB1 gene mutation was firstly reported related to intellectual disability in 2012, to explore the clinical phenotype and genotype characteristics of CTNNB1 mutation, we collected and analyzed the clinical data of a child with a neurodevelopmental ...
Zhongling KE, Yanhui CHEN
doaj +1 more source
Clinical Case Reports, Volume 14, Issue 10, October 2026.ABSTRACT In children with unexplained multisystem involvement—global developmental delay, dysmorphism, skeletal anomalies, and severe transfusion‐dependent anemia—especially from consanguineous families, whole‐exome sequencing should be pursued early to enable timely diagnosis, proactive iron chelation, and genetic counseling.
Arimanda Chaitanya Laasya Reddy +5 more
wiley +1 more source
Cardiogenetics, 2011 Atrioventricular canal defect (AVCD) is a common congenital heart defect (CHD), representing 7.4% of all cardiac malformations, considered secondary to an extracellular matrix anomaly.
M. Cristina Digilio +5 more
doaj +1 more source
Molecular Reproduction and Development, Volume 93, Issue 10, October 2026.ABSTRACT The aim of this study was to characterize the proteome of sperm and seminal plasma (SP) from rams with high semen freezability (HF) and low semen freezability (LF). Eleven ejaculates were collected from 12 rams, at 3‐day intervals, and cryopreserved (132 semen samples).
Wallisson Bruno de Morais Pacheco +14 more
wiley +1 more source
A nonclassified preaxial polydactyly of the foot
, 1997 Polydactyly of the foot has been classified according to anatomic differences in bony structures, external appearance of involved digits and associated anomalies.
core +1 more source
, 2022 Polydactyly is a genetic condition in which a cat is born with more than the typical number of toes. It is a dominant genetic mutation and is fairly common in cats.
Benson, Rosa +3 more
core
Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 10, Page 1950-1964, October 2026.Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao +5 more
wiley +1 more source
BILATERAL APLASIA OF THE TIBIA, POLYDACTYLY AND ABSENT THUMB IN FATHER AND DAUGHTER
, 1971 1. A family is reported in which tibial aplasia with polydactyly of hands and feet and absent thumbs occurred in a father and daughter. 2. The evidence suggests the existence of an autosomal dominant mutant gene that causes absent thumbs and manual ...
H. Pashayan +3 more
core +1 more source
Case Reports in Pulmonology, 2015 Short-rib polydactyly syndrome is an autosomal recessively inherited lethal skeletal dysplasia. The syndrome is characterized by marked narrow fetal thorax, short extremities, micromelia, cleft palate/lip, polydactyly, cardiac and renal abnormalities ...
Nihat Demir +5 more
doaj +1 more source