Results 151 to 160 of about 8,769 (269)
Across Gli3+/Δ699, Gli2+/−, and combined Gli2+/−;Gli3+/Δ699 mice (males and females, with wild‐type controls), GLI2 and GLI3 differentially regulate anogenital distance and juvenile behavior, with amplified effects under combined disruption, whereas circulating steroids and sexually dimorphic nucleus area remain unchanged. Created in BioRender. Niepsuj,
Thomas Niepsuj +6 more
wiley +1 more source
ABSTRACT Short rib‐polydactyly syndrome (SRPS), with or without polydactyly, encompasses a range of autosomal recessive skeletal dysplasias characterized by shortened limbs, narrow thorax, and visceral abnormalities. Accurate genetic testing is crucial for the diagnosis and treatment of different clinical subtypes. This study investigates gene variants
Shiyao Xian +7 more
wiley +1 more source
Foot and Ankle Deformities in Fibular Hemimelia: Narrative Review. [PDF]
AlShayhan F.
europepmc +1 more source
The Burden of Lower Limb Deformities in Low- and Lower-Middle-Income Countries: A Scoping Review. [PDF]
Montoya RL +4 more
europepmc +1 more source
Management of Lower-Extremity Deformity in Arthrogryposis Multiplex Congentia: A Narrative Review. [PDF]
Shang Y, Xu J.
europepmc +1 more source
Reconstructive Surgery for Foot Ectrodactyly in an Adolescent Patient: A Case Report. [PDF]
Meceda CJS, Tablante AJC, Tablante EB.
europepmc +1 more source
Abstract Background Understanding the varied impact of COVID‐19 severity on pregnancy outcomes is crucial for informed clinical management and targeted interventions. Objective To evaluate the impact of COVID‐19 on pregnancy outcomes, distinguishing between pregnant women managed in primary care and those requiring hospitalization.
Odette de Bruin +73 more
wiley +1 more source
Clinical Variability Within the <i>PLOD2</i>-Associated Phenotypic Continuum: Three Novel Variants in Four Patients from a Descriptive Case Series. [PDF]
Merkuryeva ES +10 more
europepmc +1 more source
We have evaluted and discussed the 1 year foolow up of Complete Subtalar Release Procedure we have performed, for 16 Congenital Clup Foot Deformities of 11 children, in University of Istanbul Medical Faculty, Orthopaedics and Traumatology Departmant ...
Azmi Hamzaoglu +4 more
doaj
Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive disorder caused by pathogenic variants in the DHCR7 gene. Based on our observations and a review of the literature, we demonstrate that the NM_001360.2(DHCR7):c.89G>C p.(Gly30Ala) variant is associated with a mild SLOS phenotype.
Júlia Martinková +8 more
wiley +1 more source

