Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)

Autor: Lilian Bomme Ousager, Anja Lisbeth Frederiksen, Martin Jakob Larsen, Morten Frost, Anne Bruun Krøigård

Publikováno v: Krøigård, A B, Frost, M, Larsen, M J, Ousager, L B & Frederiksen, A L 2016, ' Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) ', Bone, vol. 92, pp. 145-149 . https://doi.org/10.1016/j.bone.2016.08.023

Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1), or Taybi-Linder syndrome is characterized by distinctive skeletal dysplasia, severe intrauterine and postnatal growth retardation, microcephaly, dysmorphic features, and neurological m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46bec3766b27b8c4805e3d75945c9958

Cephaloskeletal dysplasia (Taybi-Linder syndrome): Case report and anesthetic considerations☆

Autor: Francisco Sánchez-Carrillo, Marta García-Santigosa, Jesús Acosta-Martínez, Maria Luisa Marenco de la Fuente, Rosana Guerrero-Domínguez, Daniel López-Herrera-Rodríguez

Publikováno v: Colombian Journal of Anesthesiology. 44:40-43

Introduction Microcephalic osteodysplastic primordial dwarfism (or Taybi-Linder syndrome) is a rare disease characterized by bone and central nervous system malformations, in addition to intrauterine retardation. Case presentation 20-year-old patient

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30179d4688bb231960263431adfd22d9
https://doi.org/10.1097/01819236-201644010-00009

Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome

Autor: Putoux, A., Alqahtani, A., Pinson, L., Paulussen, A.D., Michel, J., Besson, A., Mazoyer, S., Borg, I., Nampoothiri, S., Vasiljevic, A., Uwineza, A., Boggio, D., Champion, F., Die-Smulders, C.E. de, Gardeitchik, T., Putten, W.K. van, Perez, M.J., Musizzano, Y., Razavi, F., Drunat, S., Verloes, A., Hennekam, R., Guibaud, L., Alix, E., Sanlaville, D., Lesca, G., Edery, P.

Publikováno v: Clinical Genetics, 90, 550-555
Clinical Genetics, 90(6), 550-555. Wiley
Clinical genetics, 90(6), 550-555. Wiley-Blackwell
Clinical Genetics, 90, 6, pp. 550-555

Taybi-Linder syndrome (TALS, OMIM 210710) is a rare autosomal recessive disorder belonging to the group of microcephalic osteodysplastic primordial dwarfisms (MOPD). This syndrome is characterized by short stature, skeletal anomalies, severe microcep

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0037dd2e669c539cccc0121850338c17
https://pubmed.ncbi.nlm.nih.gov/27040866

Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome

Autor: Annick Toutain, Patrick Edery, Audrey Labalme, Elisabeth Steichen, Françoise Clerget-Darpoux, Anne-Louise Leutenegger, Emmanuelle Génin

Publikováno v: American journal of human genetics. 79(1)

The use of inbred patients whose exact genealogy may not be available is of primary interest in mapping genes involved in rare recessive diseases. We show here that this can be achieved by estimating inbreeding coefficients from the patients’ genom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac9023fd8c106d34e04443e5fbb57bb0
https://pubmed.ncbi.nlm.nih.gov/16773566

Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature

Autor: G. F. Vichi, P. L. Duvina, Guido Currarino, Luca Filippi, R. L. Wasserman

Publikováno v: Pediatric radiology. 30(9)

We report two unrelated infants with cephaloskeletal dysplasia or Taybi-Linder syndrome, also referred to as osteodysplastic primordial dwarfism Type III. They presented with peculiar facial features, microcephaly and skeletal and cerebral abnormalit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18f01f2841c96fdd19fe074d2f837fd2
https://pubmed.ncbi.nlm.nih.gov/11009306