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Expanding the Genotypic and Phenotypic Spectrum of -Related Conditions: Three More Cases.
Genes (Basel)
December 2024
Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Introduction: Pathogenic variants in the gene are linked to a spectrum of syndromes that exhibit partial clinical overlap. Hemizygous loss-of-function variants are considered lethal in males, while heterozygous loss-of-function variants generally result in oro-facial-digital syndrome type 1. A reported phenotype, Simpson-Golabi-Behmel syndrome type 2, was published once but remains controversial, with many specialists questioning its validity and arguing about its continued listing in the OMIM database.
View Article and Find Full Text PDFGigantic Isolated Congenital Muscular Diverticulum of the Left Ventricular Outflow Tract.
Eur Heart J Cardiovasc Imaging
November 2024
Department of Echocardiography, Wuhan Asia Heart Hospital Affiliated to Wuhan University of Science and Technology. No.753 Jinghan Road, Hankou District, Wuhan 430022, P.R. China.
Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review.
Am J Med Genet A
December 2024
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Simpson-Golabi-Behmel syndrome (SGBS) is a rare congenital overgrowth condition characterized by macrosomia, macroglossia, coarse facial features, and development delays. It is caused by pathogenic variants in the GPC3 gene on chromosome Xq26.2.
View Article and Find Full Text PDFAcromegaly in humans and cats: Pathophysiological, clinical and management resemblances and differences.
Growth Horm IGF Res
June 2024
Pituitary Tumor Unit, Endocrinology Department, Hospital CUF Descobertas, Lisbon, Portugal; Faculdade de Medicina, Universidade Católica Portuguesa, Lisbon, Portugal. Electronic address:
Article Synopsis
- Acromegaly is a disorder caused by excess growth hormone (GH) and insulin-like growth factor-1 (IGF-1), leading to distinct physical changes and various health complications in both humans and cats.
- A literature review highlighted similarities and differences in how acromegaly manifests in these species, including craniofacial changes, joint issues, and cardiometabolic risks.
- Both species experience growth-related problems and associated diseases, but unique symptoms like human-specific skin conditions and different physical changes in cats distinguish their presentations.
A case of pancreatoblastoma in a child with Simpson-Golabi-Behmel syndrome: Highlighting the importance of alpha fetoprotein monitoring.
Pediatr Blood Cancer
August 2024
Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
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