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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
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
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
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
Chondrodysplasia punctata: a case report.
Mulpruek P, Mulpruek T, Phatrakom C.
J Med Assoc Thai. 1992 Jan;75 Suppl 1:119-24.
PMID:1402454
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