Learman Syndrome Latest Advances

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