Diastrophic Dysplasia.
Unger S, Superti-Furga A.
2004 Nov 15 [updated 2023 Mar 16]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
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.
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.
[Diastrophic dysplasia].
Yokoyama Y.
Ryoikibetsu Shokogun Shirizu. 2001;(33):560-1.
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.
SLC26A2-Related Atelosteogenesis.
Superti-Furga A, Unger S.
2002 Aug 30 [updated 2023 Mar 16]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
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.
Diastrophic dysplasia.
Duraiswamy A, Iyer S, Kher AS, Bharucha BA.
Indian Pediatr. 1994 Nov;31(11):1403-5.
Diastrophic dysplasia - variant.
Dabas A, Khadgawat R.
Indian Pediatr. 2014 Feb;51(2):161. doi: 10.1007/s13312-014-0338-7.
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.
