Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens +3 more
wiley +1 more source
Alargamientos quirúrgicos de las extremidades en la talla baja patológica [PDF]
, 1992 Se presenta nuestra experiencia de elongacione s óseas en 207 paciente s afectos de talla baja patológica: 165 condrodisplasias, 15 síndromas de Turner, 11 casos de pubertad precoz, 9 casos de talla baja constitucional, 2 raquistismos médico-resistentes,
Cavalieri, P. +3 more
core
Growth Standards for Children With Smith–Magenis Syndrome (SMS)
American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 569-578, March 2026.ABSTRACT Smith–Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid‐1 (RAI1) gene either by a pathogenic sequence variant or deletion at chromosome 17p11.2 involving a portion or all of this gene.
Julie Hoover‐Fong +10 more
wiley +1 more source
Human Chromosome 4 Sequencing And Single Nucleotide Polymorphism (Snp) Analysis Of An Achondroplasia Individual [PDF]
, 2011 Achondroplasia adalah penyebab paling umum kekerdilan manusia yang beranggota pendek dan mempengaruhi seramai 250,000 orang di seluruh ...
Lee , Ling Sze
core +2 more sources
Prediction, prevention and personalisation of medication for the prenatal period: genetic prenatal tests for both rare and common diseases [PDF]
, 2011 Genetic testing usually helps physicians to determine possible genetic diseases in unborn babies, genetic disorders of patients and the carriers who might pass the mutant gene on to their children.
Asli Subasioglu Uzak +3 more
core +1 more source
Spinal stenosis: A summary and review [PDF]
, 1993 A review of the etiology, clinical, radiological and laboratory presentation, differential diagnosis and management of spinal stenosis is presented.
Walker, B.F.
core +1 more source
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin [PDF]
, 2010 Background: Dravet syndrome is a severe infantile epileptic encephalopathy caused in approximately 80% of cases by mutations in the voltage gated sodium channel subunit gene SCN1A. The majority of these mutations are de novo.
Berkovic, S. +8 more
core +1 more source
Elevated fibroblast growth factor signaling is critical for the pathogenesis of the dwarfism in Evc2/Limbin mutant mice [PDF]
, 2016 Ellis-van Creveld (EvC) syndrome is a skeletal dysplasia, characterized by short limbs, postaxial polydactyly, and dental abnormalities. EvC syndrome is also categorized as a ciliopathy because of ciliary localization of proteins encoded by the two ...
Allen, Benjamin +13 more
core +5 more sources
Achondroplasia with SRY-positive 46, XX disorder of sex development: an extremely rare association
Endocrinology, Diabetes & Metabolism Case Reports, 2018 A 40-year-old man with achondroplasia presented with symptoms of hypogonadism, low libido and gynaecomastia. He was found to have hypergonadotropic hypogonadism, and karyotype and fluorescent in situ hybridisation analysis showed SRY-positive 46, XX ...
Yang Timothy Du, Angus Rutter, Jui Ho
doaj +1 more source