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Last Updated: 03/06/2025
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Found 694 publications
Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and compromises extracellular matrix formation.
Journal: bioRxiv : the preprint server for biology
Published: February 03, 2025
Personal Genetic-Hypertension Odyssey From Phenotypes to Genotypes and Targets.
Journal: Hypertension (Dallas, Tex. : 1979)
Published: October 02, 2024
Decoding Monogenic Hypertension: A Review of Rare Hypertension Disorders.
Journal: American journal of hypertension
Published: September 14, 2024
Genotype-Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation.
Journal: International journal of molecular sciences
Published: September 06, 2024
A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report.
Journal: Oxford medical case reports
Published: July 13, 2024
Polybrachysyndactyly in all 4 extremities: Case report.
Journal: International journal of surgery case reports
Published: May 31, 2024
Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in FBN1 and a literature review.
Journal: Frontiers in pediatrics
Published: May 06, 2024
Genetic analysis of a Chinese pedigree affected with Brachydactyly type B1 due to a novel variant of ROR2 gene
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: April 29, 2024
Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects.
Journal: European journal of endocrinology
Published: April 02, 2024
Short Stature and Brachydactyly in an 8-year-old Girl with Congenital Hypothyroidism.
Journal: Pediatrics in review
Published: March 31, 2024
Brachydactyly type B: a rare case report and literature review.
Journal: Journal of surgical case reports
Published: March 30, 2024
Nephronophthisis-associated ciliopathy with brachydactyly, medullary cysts, and chronic kidney disease.
Journal: Kidney international
Published: March 27, 2024
Last Updated: 03/06/2025