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Obstetrics and Gynecology, 2009
Ehlers-Danlos syndrome is a group of inherited connective tissue diseases demonstrating autosomal-dominant, autosomal-recessive, and X-linked inheritance patterns. The diagnosis can be established by clinical, biochemical, and genetic findings.Our nulliparous patient presented with an unspecified diagnosis of Ehlers-Danlos syndrome.
Emmanuel J, Esaka +3 more
exaly +3 more sources
Ehlers-Danlos syndrome is a group of inherited connective tissue diseases demonstrating autosomal-dominant, autosomal-recessive, and X-linked inheritance patterns. The diagnosis can be established by clinical, biochemical, and genetic findings.Our nulliparous patient presented with an unspecified diagnosis of Ehlers-Danlos syndrome.
Emmanuel J, Esaka +3 more
exaly +3 more sources
Neuropediatrics, 2016
Background: a differential diagnosis to neuromuscular diseases is Ehlers-Danlos syndrome (EDS) kyphoscoliotic form (formerly type VI; OMIM 225400). Patients present with pronounced muscular hypotonia, delay of motor development, kyphoscoliosis, velvet skin texture and tall stature due to a rare autosomal recessive disorder of collagen metabolism with ...
M. Schroth +5 more
openaire +1 more source
Background: a differential diagnosis to neuromuscular diseases is Ehlers-Danlos syndrome (EDS) kyphoscoliotic form (formerly type VI; OMIM 225400). Patients present with pronounced muscular hypotonia, delay of motor development, kyphoscoliosis, velvet skin texture and tall stature due to a rare autosomal recessive disorder of collagen metabolism with ...
M. Schroth +5 more
openaire +1 more source
Molecular Genetics and Metabolism, 2002
The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS type VIA) (OMIM 225400) is an autosomal recessive connective tissue disorder that results from mutations in the lysyl hydroxylase 1 gene (PLOD1) causing underhydroxylation of lysine residues in tissue collagens, particularly of skin.
Beat Steinmann, Mary Ann Weis
exaly +3 more sources
The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS type VIA) (OMIM 225400) is an autosomal recessive connective tissue disorder that results from mutations in the lysyl hydroxylase 1 gene (PLOD1) causing underhydroxylation of lysine residues in tissue collagens, particularly of skin.
Beat Steinmann, Mary Ann Weis
exaly +3 more sources
Molecular Genetics and Metabolism, 2005
The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) is an inheritable connective tissue disorder characterized by a deficiency of lysyl hydroxylase due to mutations in PLOD1. We describe a mutation analysis strategy for the PLOD1 gene using either cDNA or gDNA or a combination thereof, which allows for reliable, time-effective and efficient ...
Cecilia Giunta, Beat Steinmann
exaly +3 more sources
The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) is an inheritable connective tissue disorder characterized by a deficiency of lysyl hydroxylase due to mutations in PLOD1. We describe a mutation analysis strategy for the PLOD1 gene using either cDNA or gDNA or a combination thereof, which allows for reliable, time-effective and efficient ...
Cecilia Giunta, Beat Steinmann
exaly +3 more sources
American Journal of Medical Genetics Part A
ABSTRACTKyphoscoliotic Ehlers‐Danlos syndrome (kEDS) Type 1 is a rare hereditary connective tissue disorder due to biallelic deleterious variants in PLOD1 and is mainly characterized by hypotonia, congenital kyphoscoliosis, eye fragility, hyperextensible skin, Marfanoid habitus, and joint hypermobility. In PLOD1‐kEDS, deleterious variants are typically
Federica Russo +9 more
openaire +2 more sources
ABSTRACTKyphoscoliotic Ehlers‐Danlos syndrome (kEDS) Type 1 is a rare hereditary connective tissue disorder due to biallelic deleterious variants in PLOD1 and is mainly characterized by hypotonia, congenital kyphoscoliosis, eye fragility, hyperextensible skin, Marfanoid habitus, and joint hypermobility. In PLOD1‐kEDS, deleterious variants are typically
Federica Russo +9 more
openaire +2 more sources
Critical care of kyphoscoliotic type Ehlers-Danlos syndrome with recurrent vascular emergencies
Vasa, 2014Albert, Busch +6 more
openaire +2 more sources
Vascular Phenotype of Kyphoscoliotic Ehlers–Danlos Syndrome
Indian Journal of PediatricsDiptirekha Satapathy +1 more
openaire +2 more sources