Related to ISPD
1 - 8 of 8 results found for ISPD. Did you mean: isd
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A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous...
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A new homozygous ISPD mutation is associated with either early limb-girdle or congenital...
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ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause...
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ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies
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ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause...
Walker-Warburg syndrome (WWS) is clinically defined as congenital muscular dystrophy that is accompanied by a variety of brain and eye malformations. It represents the most severe clinical phenotype in a spectrum of diseases associated with abnormal
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ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Dystroglycanopathies are a clinically and genetically diverse group of recessively inherited conditions ranging from the most severe of the congenital muscular dystrophies, Walker-Warburg syndrome, to mild forms of adult-onset limb-girdle muscular
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A Study to Assess Global Availability of Fetal Surgery for Myelomeningocele.
AIM: To establish the provision of fetal surgery for myelomeningocele (MMC) worldwide. METHODS: Through the International Society for Prenatal Diagnosis (ISPD) Fetal Therapy Special Interest Group and the North American Fetal Therapy Network (NAFTNet
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Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of...
Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions; some fatal in the first few years of life and with central nervous system involvement, whereas others present a milder course. We provide a comprehensive
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