Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
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Cilia/Ift protein and motor -related bone diseases and mouse modelsNephronophthisis and related syndromesAxial Spondylometaphyseal Dysplasia Is Caused by C21orf2 MutationsMutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophyMutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndromeTCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.WD60/FAP163 is a dynein intermediate chain required for retrograde intraflagellar transport in ciliaCommon skeletal features in rare diseases: New links between ciliopathies and FGF-related syndromes.Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.Autopsy observations in lethal short-rib polydactyly syndromes.Crystal structure of intraflagellar transport protein 80 reveals a homo-dimer required for ciliogenesis.Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.DYNC2H1 mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy.Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.
P2860
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P2860
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
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article científic
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Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
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Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
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Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
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P2093
P50
P1476
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
@en
P2093
Albert David
Anne Dieux-Coeslier
Anne-Lise Delezoide
Brigitte Estournet
Christine Francannet
Claire Do Ngoc Thanh
Florence Lacaille
Geneviève Baujat
Honorine Kayirangwa
Jelena Martinovic
P356
10.1136/JMEDGENET-2012-101282
P407
P577
2013-02-01T00:00:00Z