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CHAND syndrome相关文献:
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.
Busa T, Jeraiby M, Clémenson A, Manouvrier S, Granados V, Philip N, Touraine R.
Am J Med Genet A. 2017 Nov;173(11):3114-3117. doi: 10.1002/ajmg.a.38475. Epub 2017 Sep 21.
PMID:28940926
Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.
Gollasch B, Basmanav FB, Nanda A, Fritz G, Mahmoudi H, Thiele H, Wehner M, Wolf S, Altmüller J, Nürnberg P, Frank J, Betz RC.
Am J Med Genet A. 2015 Nov;167A(11):2555-62. doi: 10.1002/ajmg.a.37233. Epub 2015 Jun 30.
PMID:26129644
AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias.
Bertola DR, Kim CA, Sugayama SM, Albano LM, Utagawa CY, Gonzalez CH.
Pediatr Dermatol. 2000 May-Jun;17(3):218-21. doi: 10.1046/j.1525-1470.2000.01756.x.
PMID:10886756
Re-evaluation of CHANDS.
Toriello HV, Lindstrom JA, Waterman DF, Baughman FA.
J Med Genet. 1979 Aug;16(4):316-7. doi: 10.1136/jmg.16.4.316.
PMID:490586
Rare Variant of Ankyloblepharon-ectodermal Defect-cleft Lip/Cleft Palate Syndrome: Curly Hair-ankyloblepharon-nail Disease Syndrome.
Chopra A, Mitra D, Kandpal R, Agarwal R.
Int J Trichology. 2018 Jan-Feb;10(1):17-20. doi: 10.4103/ijt.ijt_55_17.
PMID:29440852
Ectodermal dysplasia showing clinical overlap between AEC, Rapp-Hodgkin and CHAND syndromes.
Sahin MT, Türel-Ermertcan A, Chan I, McGrath JA, Oztürkcan S.
Clin Exp Dermatol. 2004 Sep;29(5):486-8. doi: 10.1111/j.1365-2230.2004.01584.x.
PMID:15347331
Hay-Wells syndrome in a child with mutation in the TP73L gene.
Garcia Bartels N, Neumann LM, Mleczko A, Rubach K, Peters H, Rossi R, Sterry W, Blume-Peytavi U.
J Dtsch Dermatol Ges. 2007 Oct;5(10):919-23. doi: 10.1111/j.1610-0387.2007.06379.x.
PMID:17910675
CHANDS: the curly hair-ankyloblepharon-nail dysplasia syndrome.
Baughman FA Jr.
Birth Defects Orig Artic Ser. 1971 Jun;7(8):100-2.
PMID:5173251
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