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Last Updated: 10/31/2025
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Found 315 publications
Surgical management of ectrodactyly-associated foot deformity in a child: a case report.
Journal: Journal of medical case reports
Published: May 02, 2025
Lethal multiple pterygium syndrome in a newborn, a case report.
Journal: Clinical case reports
Published: March 25, 2023
Rapid Progression of Heterotopic Ossification in Severe Variant of Fibrodysplasia Ossificans Progressiva with p.Arg258Gly in ACVR1: A Case Report and Review of Clinical Phenotypes.
Journal: Case reports in genetics
Published: July 08, 2022
ERI1: A case report of an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities.
Journal: American journal of medical genetics. Part A
Published: June 27, 2022
An anatomical classification of congenital proximal radioulnar synostosis based on retrospective MRI measurement combined with radiography.
Journal: Scientific reports
Published: August 04, 2021
Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder.
Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
Published: May 28, 2021
Bartsocas-Papas syndrome: The first case report of severe autosomal recessive form from Indonesia.
Journal: International journal of surgery case reports
Published: December 15, 2020
Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation.
Journal: BMC medical genomics
Published: November 30, 2020
Carpenter syndrome in a patient from Tanzania.
Journal: American journal of medical genetics. Part A
Published: September 06, 2020
Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1.
Journal: American journal of medical genetics. Part A
Published: August 27, 2020
Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 20, 2020
Is the Apert foot an overlooked aspect of this rare genetic disease? Clinical findings and treatment options for foot deformities in Apert syndrome.
Journal: BMC musculoskeletal disorders
Published: July 24, 2020
Last Updated: 10/31/2025