• A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts
• A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation
• A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype
• A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation
• A novel MAP3K7 mutation in a child with cardiospondylocarpofacial syndrome and orofacial clefting
• A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder
• A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia
• A novel variant in <em>MAP3K7</em> associated with an expanded cardiospondylocarpofacial syndrome phenotype
• A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations
• Airway management of a child with frontometaphyseal dysplasia (Gorlin Cohen syndrome)
• Anterior Segment Dysgenesis With Accessory Iris Membranes in an Infant With Otopalatodigital Spectrum Disorder and Mutation in the FLNA Gene
• Association of mutations in FLNA with craniosynostosis
• Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype
• Case report 717. Osteodysplasty (Melnick-Needles syndrome)
• Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1
• Case Report: Pansynostosis, Chiari I Malformation and Syringomyelia in a Child With Frontometaphyseal Dysplasia 1
• Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families
• Cranioplasty in frontometaphyseal dysplasia
• CT and MR findings in frontometaphyseal dysplasia
• Differential diagnosis of metaphyseal dysplasias and osteodysplasty (osteodysplasty of Melnick and Needles) (author's transl)
• Esophageal atresia with distal tracheoesophageal fistula in a patient with fronto-metaphyseal dysplasia
• Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia
• Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7
• Exploration of cochlear implant in frontometaphyseal dysplasia 2 patient with <em>MAP3K7</em> gene mutation: a case report
• Exploration of cochlear implant in frontometaphyseal dysplasia 2 patient with MAP3K7 gene mutation: a case report
• Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With <em>FLNA</em>
• Familial frontometaphyseal dysplasia- evidence for dominant inheritance
• Fetal phenotypes in otopalatodigital spectrum disorders
• Foot deformity in frontometaphyseal dysplasia (Gorlin-Cohen syndrome): a case report
• Frontal cranioplasty in fronto-metaphyseal dysplasia
• Fronto-metaphyseal dysplasia
• Fronto-metaphyseal dysplasia. A progressive disease of bone and connective tissue
• Fronto-metaphyseal dysplasia. Further delineation of the clinical syndrome
• Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia
• Frontometaphyseal dysplasia
• Frontometaphyseal dysplasia
• Frontometaphyseal dysplasia 1 caused by variant of FLNA gene in a case
• Frontometaphyseal dysplasia 1 in a patient from Sri Lanka
• Frontometaphyseal dysplasia 2 associated with thoracic deformity, and pulmonary arterial hypertension: a case report and review of literature
• Frontometaphyseal dysplasia and keloid formation without FLNA mutations
• Frontometaphyseal dysplasia presenting as scoliosis
• Frontometaphyseal dysplasia syndrome
• Frontometaphyseal dysplasia with congenital urinary tract malformations
• Frontometaphyseal dysplasia--evidence for X-linked inheritance
• Frontometaphyseal dysplasia: a case with Arnold-Chiari malformation and bracket epiphysis of the first metacarpal bone
• Frontometaphyseal dysplasia: a progressive disease of bone and connective tissue
• Frontometaphyseal dysplasia: autosomal dominant or X-linked?
• Frontometaphyseal dysplasia: evidence for autosomal dominant inheritance
• Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity
• Frontometaphyseal dysplasia: neonatal radiographic diagnosis
• Frontometaphyseal dysplasia: patient with ruptured aneurysm of the aortic sinus of Valsalva and cerebral aneurysms
• Frontometaphyseal dysplasia: symptoms and possible mode of inheritance
• Frontometaphyseal dysplasia. A new syndrome
• Frontometaphyseal Dysplasia. Evidence for dominant inheritance
• Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia
• Gorlin-Cohen syndrome (frontometaphyseal dysplasia)
• Laryngo-tracheal stenosis in frontometaphyseal dysplasia
• Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
• Lung disease associated with periventricular nodular heterotopia and an FLNA mutation
• Mitral valve prolapse in a patient with frontometaphyseal dysplasia
• Multi-directional Cranial Distraction Osteogenesis for Treating Sagittal Synostosis with Frontometaphyseal Dysplasia: A Case Report
• Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome
• Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia
• Ophthalmological complications in the sclerosing bone dysplasias
• Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum
• Otopalatodigital syndrome and frontometaphyseal dysplasia, splitters and lumpers, and paternity of ideas
• Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome
• Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G&gt;T mutation: clinical, pathological, and molecular findings
• Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survival
• Phenotype and Genotype Study in a Case of Frontometaphyseal Dysplasia 1
• Picture of the month: Frontometaphyseal dysplasia
• Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders
• Professional awareness is needed to distinguish between child physical abuse from other disorders that can mimic signs of abuse (Skull base sclerosis in infant manifesting features of infantile cortical hyperostosis): a case report and review of the liter
• Radiographic findings in Shprintzen-Goldberg syndrome
• Radiological changes of frontometaphyseal dysplasia in the neonate
• Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation
• Restrictive chest bellows disease and frontometaphyseal dysplasia
• Scoliosis and cor pulmonale
• Sex-linked inheritance in fronto-metaphyseal dysplasia
• Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?
• Skeletal Dysplasia Mutations Effect on Human Filamins' Structure and Mechanosensing
• Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin A
• Structure of filamin A immunoglobulin-like repeat 10 from Homo sapiens
• Surgical Management of Craniomaxillofacial Features in the Otopalatodigital Spectrum Disorders
• The anaesthetic management of an infant with frontometaphyseal dysplasia (Gorlin-Cohen syndrome)
• The Erlenmeyer flask bone deformity in the skeletal dysplasias
• The infant skull: a vault of information
• The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations
• The skull in metaphyseal chondrodysplasia type Jansen
• Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report
• Whole genome sequencing and 6-year follow-up of a mother and daughter with frontometaphyseal dysplasia associated with keratitis, xerosis, poikiloderma, and acro-osteolysis: A case report
• X-linked frontometaphyseal dysplasia with severe scoliosis and spinal cord compromise in an Indian boy
• X-Linked Otopalatodigital Spectrum Disorders