首页 > 按专业查询名词 > 查询PubMed相关文献
名词信息
Pubmed相关的文献
chondrodysplasia punctata相关文献:
Chondrodysplasia punctata (Conradi disease).
O'Brien TJ.
Int J Dermatol. 1990 Sep;29(7):472-6. doi: 10.1111/j.1365-4362.1990.tb04835.x.
PMID:2228371
Brachytelephalangic chondrodysplasia punctata.
Bieganski T, Kozlowski K.
Australas Radiol. 1998 Aug;42(3):244-5. doi: 10.1111/j.1440-1673.1998.tb00506.x.
PMID:9727255
Chondrodysplasia punctata: a clinical diagnostic and radiological review.
Irving MD, Chitty LS, Mansour S, Hall CM.
Clin Dysmorphol. 2008 Oct;17(4):229-41. doi: 10.1097/MCD.0b013e3282fdcc70.
PMID:18978650
Chondrodysplasia punctata.
Swoboda W.
J Pediatr. 1977 Nov;91(5):852. doi: 10.1016/s0022-3476(77)81068-8.
PMID:909034
Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.
İli EG, Gezdirici A, Di Pietro E, Yergeau C, Braverman N.
Am J Med Genet A. 2022 Nov;188(11):3229-3235. doi: 10.1002/ajmg.a.62959. Epub 2022 Aug 20.
PMID:35986576
Rhizomelic chondrodysplasia punctata morbidity and mortality, an update.
Duker AL, Niiler T, Kinderman D, Schouten M, Poll-The BT, Braverman N, Bober MB.
Am J Med Genet A. 2020 Mar;182(3):579-583. doi: 10.1002/ajmg.a.61413. Epub 2019 Nov 25.
PMID:31769196
[Chondrodysplasia punctata].
Hikino S.
Ryoikibetsu Shokogun Shirizu. 2001;(33):370-1.
PMID:11462480
Chondrodysplasia punctata: case report and review of audiological and ENT features.
Murdin L, Sirimanna T, Hartley BE, Holder SE.
J Laryngol Otol. 2006 Mar;120(3):233-6. doi: 10.1017/S002221510500472X. Epub 2005 Nov 25.
PMID:16359148
Airway manifestations of chondrodysplasia punctata.
Seguin JH, Baugh RF, McIntee RA.
Int J Pediatr Otorhinolaryngol. 1993 May;27(1):85-90. doi: 10.1016/0165-5876(93)90040-a.
PMID:8314671
A novel frameshift deletion variant of ARSL associated with X-linked recessive chondrodysplasia punctata 1: a case report and literature review of prenatal, confirmed cases.
Zhou L, Peng Y, Chen J, Xi H, Wang S, Kang G, Tang W, Xie W.
BMC Med Genomics. 2024 Oct 18;17(1):253. doi: 10.1186/s12920-024-02029-9.
PMID:39425194
© Copyright 2021 鸿泰茂源  版权所有All Rights Reserved京ICP备11040441号-3