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chondrodysplasia punctata相关文献:
[Chondrodysplasia punctata].
Hikino S.
Ryoikibetsu Shokogun Shirizu. 2001;(33):370-1.
PMID:11462480
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
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
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
Spinal deformity in chondrodysplasia punctata.
Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R.
Spine (Phila Pa 1976). 2002 Sep 15;27(18):1995-2002. doi: 10.1097/00007632-200209150-00007.
PMID:12634559
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
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
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
Chondrodysplasia punctata presenting with tracheal obstruction.
Schweiger C, Nassar MN, Goebel D, Rutter MJ.
Int J Pediatr Otorhinolaryngol. 2017 Feb;93:100-102. doi: 10.1016/j.ijporl.2016.12.022. Epub 2016 Dec 26.
PMID:28109478
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