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Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : further insights into the phenotypic spectrum and pathogenic mechanisms
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)
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Homozygous null TBX4 mutations lead to posterior amelia with pelvic and pulmonary hypoplasia
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Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency
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Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome
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- Journal Article
- A1
- open access
Discriminative features in three autosomal recessive cutis laxa syndromes : cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica
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- Journal Article
- A1
- open access
Barber-Say syndrome and ablepharon-macrostomia syndrome : a patient's view
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa
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Novel phenotypes and genes in pseudoxanthoma elasticum-related soft tissue mineralization: results of an integrative approach
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Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes