Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 [PDF]
, 2018 Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000–3,000, is characterized by a highly variable clinical presentation.
Balasubramanian, M. (Meena) +74 more
core +1 more source
Clinical Genetics, Volume 108, Issue 2, Page 134-145, August 2025.Early‐onset Marfan syndrome (eoMFS) is a rare disorder with atrioventricular valve insufficiency being the most severe symptom. We propose to regard eoMFS as a spectrum, ranging from a severe disorder life‐threatening already before or immediately after birth, to a disorder with a better survival rate, creating a window for atrioventricular valve ...
Eva C. van der Leest +12 more
wiley +1 more source
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study. [PDF]
, 2014 ObjectiveTo assess the efficacy and safety of enzyme replacement therapy (ERT) with BMN 110 (elosulfase alfa) in patients with Morquio A syndrome (mucopolysaccharidosis IVA).MethodsPatients with Morquio A aged ≥5 years (N = 176) were randomised (1:1:
A McDonald +43 more
core +2 more sources
Association between joint dislocation and malignant hyperthermia
Anaesthesia Reports, Volume 13, Issue 2, July‐December 2025.Summary Malignant hyperthermia is a potentially fatal autosomal dominant hypermetabolic pharmacogenetic syndrome resulting from altered intracellular calcium dynamics in skeletal muscle, triggered by halogenated anaesthetics and suxamethonium. Current evidence suggests a degree of association between malignant hyperthermia and joint dislocations.
A. O. Gomes +6 more
wiley +1 more source
A new methodology for assessment of pectus excavatum correction after bar removal in Nuss procedure: preliminary study [PDF]
, 2017 Purpose: The objective is to present a new methodology to assess quantitatively the impact of bar removal on the anterior chest wall, among patients with pectus excavatum who have undergone the Nuss procedure, and present a preliminary study using this ...
Correia-Pinto, Jorge +6 more
core +1 more source
Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders
Acta Paediatrica, Volume 114, Issue 7, Page 1720-1730, July 2025.ABSTRACT Aim Type II collagen, encoded by the collagen type II alpha 1 (COL2A1) gene, is crucial for the structure of cartilage. This study aims to improve our understanding of Spondyloepiphyseal Dysplasia Congenita (SEDC) caused by mutations in COL2A1. We also aim to evaluate the safety and efficacy of growth hormone (GH) therapy in two SEDC patients.
Shumin Zhan +8 more
wiley +1 more source
Repair of pectus deformities : Experience and outcome in 317 cases
Annals of Saudi Medicine, 2006 Background: The most common congenital chest wall deformities are pectus excavatum and pectus carinatum. Various techniques have been described for correction of pectus deformities.
Genc Onur +5 more
doaj
MTSS2 ‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review
American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis +12 more
wiley +1 more source
Marfan syndrome associated to pectus carinatum: a case report from cartagena de indias. Colombia
Revista Ciencias Biomédicas, 2011 Marfan syndrome (MFS) is the most common connective tissue inherited disorder,transmitted as an autosomic dominant character. Mutation is located in FBN1 allele,that encodes to Fibrilin-1.
Malambo-García Dacia I +4 more
doaj