Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Fingernail dysplasia"'
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Telomere biology disorders, largely characterized by telomere lengths below the first centile for age, are caused by variants in genes associated with telomere replication, structure, or function. One of these genes, ACD, which encodes the shelterin
Autor:
Shaheen Shahzad, Michael J. Bamshad, Wasim Ahmad, Suzanne M. Leal, Regie Lyn P. Santos-Cortez, Muhammad Ansar, Shahan Zeb Khan, Khadim Shah, Noor Muhammad, Anwar Kamal Khan, Deborah A. Nickerson
Developmental nail disorders are heterogeneous group of genodermatosis, with nonsyndromic congenital nail disorder (NDNC) being a rare subgroup inherited in autosomal dominant or autosomal recessive pattern. These are classified into ten different ty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bf98ac7c149c9a313afadc7840015c1
https://europepmc.org/articles/PMC5685937/
https://europepmc.org/articles/PMC5685937/
Autor:
A. Vicente, S. Gómez-Armayones, O. Figueroa-Silva, C. Baliu-Piqué, D. Gutiérrez de la Iglesia, E.J. Inarejos Clemente, M. Navallas Irujo, M.J. Aldunce-Soto, M.A. González-Enseñat, A. Agudo
Publikováno v:
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Background Nail–patella syndrome (NPS) is an inherited disease produced by mutations in the LMX1B gene. It is characterized by fingernail dysplasia, hypoplastic or absent patella, dysplasia of the elbows and iliac horns on X-ray. It is useful to kn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::682db9f7429eaf742defd2ebfa7e1061
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9635
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9635
Publikováno v:
Dermatology (Basel, Switzerland). 213(2)
Nail-patella syndrome (NPS, OMIM 161200) is an autosomal dominant disorder with a clinical characteristic tetrad consisting of fingernail dysplasia, hypoplastic or absent patellae, bony protuberances of the ilia (iliac horns) and dislocation of the r
Publikováno v:
Journal of the American Academy of Dermatology. 49(6)
NAIL-PATELLA SYNDROME, FONG’S SYNDROME, OR HEREDITARY ONYCHOOSTEODYSPLASIA (HOOD), TURNERKIESER SYNDROME, OMIM #161200 Nail-patella syndrome is an autosomal dominant disorder with a characteristic clinical tetrad including fingernail dysplasia, hyp
Publikováno v:
Revista Española de Anestesiología y Reanimación. 57:542
Ellis-van Creveld syndrome is a rare type of developmental chondroectodermal dysplasia. We report the case of a 32-year-old woman with this syndrome who was scheduled for cesarean section. She had no related heart defect. A spinal block was attempted
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Autor:
Henslee G; Baylor College of Medicine, Integrated Molecular and Biomedical Sciences Graduate Program, Houston, Texas 77030, USA.; Baylor College of Medicine, Department of Pediatrics, Hematology/Oncology, Houston, Texas 77030, USA.; Texas Children's Hospital, Cancer and Hematology Centers, Houston, Texas 77030, USA., Williams CL; Baylor College of Medicine, Department of Pediatrics, Hematology/Oncology, Houston, Texas 77030, USA.; Texas Children's Hospital, Cancer and Hematology Centers, Houston, Texas 77030, USA., Liu P; Baylor College of Medicine, Department of Molecular and Human Genetics, Houston, Texas 77030, USA.; Baylor Genetics, Houston, Texas 77021, USA., Bertuch AA; Baylor College of Medicine, Integrated Molecular and Biomedical Sciences Graduate Program, Houston, Texas 77030, USA.; Baylor College of Medicine, Department of Pediatrics, Hematology/Oncology, Houston, Texas 77030, USA.; Texas Children's Hospital, Cancer and Hematology Centers, Houston, Texas 77030, USA.; Baylor College of Medicine, Department of Molecular and Human Genetics, Houston, Texas 77030, USA.
Publikováno v:
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2021 Feb 19; Vol. 7 (1). Date of Electronic Publication: 2021 Feb 19 (Print Publication: 2021).