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diastrophic dysplasia相关文献:
Diastrophic Dysplasia.
Unger S, Superti-Furga A.
2004 Nov 15 [updated 2023 Mar 16]. 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:20301524
SLC26A2 Related Diastrophic Dysplasia in 42-Years Ukrainian Women.
Bondarenko M, Haiboniuk I, Solovei I, Shargorodska Y, Makukh H.
Balkan J Med Genet. 2023 May 2;25(2):83-90. doi: 10.2478/bjmg-2022-0018. eCollection 2023 May.
PMID:37265969
SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature.
Härkönen H, Loid P, Mäkitie O.
Genes (Basel). 2021 May 11;12(5):714. doi: 10.3390/genes12050714.
PMID:34064542
Diastrophic dysplasia: prenatal diagnosis and review of the literature.
Honório JC, Bruns RF, Gründtner LF, Raskin S, Ferrari LP, Araujo Júnior E, Nardozza LM.
Sao Paulo Med J. 2013;131(2):127-32. doi: 10.1590/s1516-31802013000100024.
PMID:23657516
[Diastrophic dysplasia].
Yokoyama Y.
Ryoikibetsu Shokogun Shirizu. 2001;(33):560-1.
PMID:11462569
Identification of potential non-invasive biomarkers in diastrophic dysplasia.
Paganini C, Carroll RS, Gramegna Tota C, Schelhaas AJ, Leone A, Duker AL, O'Connell DA, Coghlan RF, Johnstone B, Ferreira CR, Peressini S, Albertini R, Forlino A, Bonafé L, Campos-Xavier AB, Superti-Furga A, Zankl A, Rossi A, Bober MB.
Bone. 2023 Oct;175:116838. doi: 10.1016/j.bone.2023.116838. Epub 2023 Jul 16.
PMID:37454964
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
Dwyer E, Hyland J, Modaff P, Pauli RM.
Am J Med Genet A. 2010 Dec;152A(12):3043-50. doi: 10.1002/ajmg.a.33736.
PMID:21077202
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.
Superti-Furga A, Rossi A, Steinmann B, Gitzelmann R.
Am J Med Genet. 1996 May 3;63(1):144-7. doi: 10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N.
PMID:8723100
SLC26A2-Related Atelosteogenesis.
Superti-Furga A, Unger S.
2002 Aug 30 [updated 2023 Mar 16]. 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:20301493
Diastrophic dysplasia.
Duraiswamy A, Iyer S, Kher AS, Bharucha BA.
Indian Pediatr. 1994 Nov;31(11):1403-5.
PMID:7896341
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