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tricho-rhino-phalangeal syndrome type Ⅱ相关文献:
Trichorhinophalangeal Syndrome.
Tüysüz B, Güneş N, Alkaya DU.
2017 Apr 20 [updated 2024 Mar 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:28426188
Tricho-rhino-phalangeal syndrome type-1.
Madhulika, Suri M, Singh G.
Indian J Pediatr. 1993 Mar-Apr;60(2):315-6. doi: 10.1007/BF02822200.
PMID:8244510
[Tricho-rhino-phalangeal syndrome, type III].
Makita Y.
Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):757-8.
PMID:11529009
[Tricho-rhino-phalangeal syndrome, type II].
Wakui K, Fukushima Y.
Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):755-6.
PMID:11529008
[Tricho-rhino-phalangeal syndrome, type I].
Ishii T.
Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):752-4.
PMID:11529007
Tricho-rhino-phalangeal syndrome type I.
Eroğlu Y, Erçal D.
Turk J Pediatr. 1996 Oct-Dec;38(4):537-42.
PMID:8993187
Tricho-rhino-phalangeal syndrome type III.
Kajii T, Fernandez Gonzalez I, Matsuura S.
Am J Med Genet. 1994 Feb 1;49(3):349-50. doi: 10.1002/ajmg.1320490323.
PMID:8209900
Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I.
de Barros GM, Kakehasi AM.
Rev Bras Reumatol Engl Ed. 2016 Jan-Feb;56(1):86-9. doi: 10.1016/j.rbre.2014.08.017. Epub 2015 Mar 9.
PMID:27267340
Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency.
Yagasaki H, Narusawa H, Watanabe D, Kobayashi K, Mitsui H, Asano Y, Nagata M, Yonei A, Inukai T.
Eur J Med Genet. 2023 Dec;66(12):104870. doi: 10.1016/j.ejmg.2023.104870. Epub 2023 Oct 23.
PMID:37879495
Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report.
Xu S, Lian Q, Wu J, Li L, Song J.
BMC Med Genet. 2020 Aug 3;21(1):158. doi: 10.1186/s12881-020-01096-w.
PMID:32746809
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