Results 161 to 170 of about 54,673 (271)
Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita
Clinical Genetics, Volume 110, Issue 5, Page 584-589, November 2026.We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr +5 more
wiley +1 more source
Whole-Exome Sequencing in Patients with Tooth Agenesis and Neurodevelopmental Disorders: A Descriptive Case Series. [PDF]
Int J Mol SciCalì F +8 more
europepmc +1 more source
Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border
Clinical Genetics, Volume 110, Issue 5, Page 627-636, November 2026.Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart +17 more
wiley +1 more source
Kallmann syndrome revealed by primary amenorrhea: Phenotypic variability and diagnostic challenges-A report of three cases. [PDF]
Radiol Case RepToulali F +8 more
europepmc +1 more source
Agenesis of the bladder and urethra: A case report
, 1988 Agenesis of the bladder is an extremely rare congenital anomaly. We describe a girl with complete agenesis of the bladder and urethra, who is alive 2 years after bilateral cutaneous ureterostomy ...
Heyns C.F., De Klerk D.P., Krull C.L.
core
Unilateral Sacroiliac Hemiagenesis in a Young Woman Presenting With Chronic Mechanical Low Back and Buttock Pain: A Case Report. [PDF]
CureusEl Morjani M +4 more
europepmc +1 more source
Unilateral Agenesis of Iliopsoas Muscle
Libyan International Medical University JournalAbdelhakim Algheryani +2 more
doaj +1 more source