• <em>O-</em>Fucosylation of ADAMTSL2 is required for secretion and is impacted by geleophysic dysplasia-causing mutations
• A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2
• A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1
• A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia
• A Review of Three Chinese Cases of Acromicric/Geleophysic Dysplasia with FBN1 Mutations
• Accommodative esotropia and Brown syndrome in a girl with recessive geleophysic dysplasia
• Acromelic dysplasias: how rare musculoskeletal disorders reveal biological functions of extracellular matrix proteins
• Acromicric dysplasia
• Acromicric dysplasia
• Acromicric dysplasia and geleophysic dysplasia: similarities and differences
• Acromicric dysplasia caused by a mutation of fibrillin 1 in a family: A case report
• Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment
• Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family
• Acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an 8-year-old boy with a missense FBN1 mutation: Case report and literature review
• Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance
• ADAMTS proteins as modulators of microfibril formation and function
• Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasia
• ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia
• Bilateral carpal tunnel syndrome in a 9-year-old boy with acromicric dysplasia
• Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family
• Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in <em>FBN1</em> and a literature review
• Children with short-limbed short stature in pediatric endocrinological services in Japan
• Clinical manifestations and genetic analysis of 4 patients with variants of FBN1 gene
• Clinical phenotype and genetic analysis of six Chinese patients affected with Acromicric dysplasia due to variants of FBN1 gene
• Clinical Phenotype of Musladin-Lueke Syndrome in 2 Beagles
• Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias
• Dental characteristics of patients with four different types of skeletal dysplasias
• Fibrillin protein pleiotropy: Acromelic dysplasias
• Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions
• From tall to short: the role of TGFβ signaling in growth and its disorders
• Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases
• Geleophysic dysplasia associated with bilateral angle closure glaucoma
• Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage
• Geleophysic dysplasia, unilateral choroidal folds and myelinated nerve fiber layer: A case report
• Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care
• Geleophysic dysplasia: a novel in-frame deletion of a tandem repeat in the ADAMTSL2 gene
• Genetic and molecular aspects of acromelic dysplasia
• Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders
• Immunolocalisation of fibrillin microfibrils in the calf metacarpal and vertebral growth plate
• Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin-binding fragment of FBN1
• Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis
• Limb- and tendon-specific Adamtsl2 deletion identifies a role for ADAMTSL2 in tendon growth in a mouse model for geleophysic dysplasia
• Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome
• Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
• Moore-Federman syndrome and acromicric dysplasia: are they the same entity?
• More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia
• Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia
• Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias
• Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I
• Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates
• Novel mutations in geleophysic dysplasia type 1
• Optic disc swelling in acromicric and geleophysic dysplasia
• Orthopedics management of acromicric dysplasia: follow up of nine patients
• Partial metaphyseal dysostosis of the acral or acromicric type
• Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome
• Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia
• Similarity of geleophysic dysplasia and Weill-Marchesani syndrome
• Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review
• Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect
• Sleep-disordered breathing and its management in children with rare skeletal dysplasias
• Subglottic stenosis in short-statured children: a case for further investigation of airway symptoms in patients with skeletal dysplasias
• The "Fantasy Island" syndrome. Identification of a new osteochondrodysplasia probably of autosomal dominant type
• The critical role of the TB5 domain of fibrillin-1 in endochondral ossification
• The fibrillin microfibril/elastic fibre network: A critical extracellular supramolecular scaffold to balance skin homoeostasis
• Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features
• Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia
• Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia