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SALL4-Related Disorders.
Kohlhase J. Kohlhase J. 2004 Aug 16 [updated 2022 Mar 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2004 Aug 16 [updated 2022 Mar 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301547 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: SALL4-related disorders include Duane-radial ray syndrome (DRRS, Okihiro syndrome), acro-renal-ocular syndrome (AROS), and SALL4-related Holt-Oram syndrome (HOS) - three phenoty …
CLINICAL CHARACTERISTICS: SALL4-related disorders include Duane-radial ray syndrome (DRRS, Okihiro syn …
Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome.
Donovan KA, An J, Nowak RP, Yuan JC, Fink EC, Berry BC, Ebert BL, Fischer ES. Donovan KA, et al. Elife. 2018 Aug 1;7:e38430. doi: 10.7554/eLife.38430. Elife. 2018. PMID: 30067223 Free PMC article.
Strikingly, heterozygous loss of function mutations in SALL4 result in a human developmental condition that phenocopies thalidomide-induced birth defects such as absence of thumbs, phocomelia, defects in ear and eye development, and congenital heart disease. We find that t …
Strikingly, heterozygous loss of function mutations in SALL4 result in a human developmental condition that phenocopies thalidomide-induced …
Characteristics of Okihiro syndrome.
Chun BB, Mazzoli RA, Raymond WR. Chun BB, et al. J Pediatr Ophthalmol Strabismus. 2001 Jul-Aug;38(4):235-9. doi: 10.3928/0191-3913-20010701-11. J Pediatr Ophthalmol Strabismus. 2001. PMID: 11495312
PURPOSE: To describe Okihiro syndrome, a syndrome consisting of Duane's syndrome, radial ray anomaly, and sensorineural deafness. ...CONCLUSION: Okihiro syndrome is consistent with autosomal dominance with variable pe …
PURPOSE: To describe Okihiro syndrome, a syndrome consisting of Duane's syndrome, radial ray …
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.
Kohlhase J, Chitayat D, Kotzot D, Ceylaner S, Froster UG, Fuchs S, Montgomery T, Rösler B. Kohlhase J, et al. Hum Mutat. 2005 Sep;26(3):176-83. doi: 10.1002/humu.20215. Hum Mutat. 2005. PMID: 16086360
Okihiro/Duane-radial ray syndrome (DRRS) is an autosomal dominant condition characterized by radial ray defects and Duane anomaly (a form of strabismus). ...The disease is the result of a mutation in the SALL4 gene, a human …
Okihiro/Duane-radial ray syndrome (DRRS) is an autosomal dominant condition characterized by radial …
Novel frameshift variant in gene SALL4 causing Okihiro syndrome.
Alves LU, Perez AB, Alonso LG, Otto PA, Mingroni-Netto RC. Alves LU, et al. Eur J Med Genet. 2016 Feb;59(2):80-5. doi: 10.1016/j.ejmg.2015.12.015. Epub 2016 Jan 11. Eur J Med Genet. 2016. PMID: 26791099 Free article.
Okihiro syndrome, Duane-radial ray syndrome or acro-reno-ocular syndrome (OMIM #607323) are alternative denominations describing an extremely variable condition, characterized by several radial defects of the …
Okihiro syndrome, Duane-radial ray syndrome or acro-reno-ocular syndrome …
Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.
Al-Baradie R, Yamada K, St Hilaire C, Chan WM, Andrews C, McIntosh N, Nakano M, Martonyi EJ, Raymond WR, Okumura S, Okihiro MM, Engle EC. Al-Baradie R, et al. Am J Hum Genet. 2002 Nov;71(5):1195-9. doi: 10.1086/343821. Epub 2002 Oct 22. Am J Hum Genet. 2002. PMID: 12395297 Free PMC article.
Duane syndrome is a congenital eye movement disorder characterized most typically by absence of abduction, restricted adduction, and retraction of the globe on attempted adduction. Duane syndrome can be coinherited with radial r …
Duane syndrome is a congenital eye movement disorder characterized most typically by absence of abduction, restricted a …
WNT pathways and upper limb anomalies.
Al-Qattan MM. Al-Qattan MM. J Hand Surg Eur Vol. 2011 Jan;36(1):9-22. doi: 10.1177/1753193410380502. Epub 2010 Aug 13. J Hand Surg Eur Vol. 2011. PMID: 20709709 Review.
The various Wnt pathways that are related to upper limb anomalies are reviewed. Abnormalities in the Wnt7a pathway (located in the dorsal ectoderm) produce several clinically relevant conditions such as the palmar duplication syndrome, nail patella syndrom …
The various Wnt pathways that are related to upper limb anomalies are reviewed. Abnormalities in the Wnt7a pathway (located in …
Clinical and Genetic Findings in Mexican Patients with Duane Anomaly and Radial Ray Malformations/Okihiro Syndrome.
Chacón-Camacho ÓF, Cabral-Macías J, Ayala-Ramírez R, Arteaga-Vázquez J, Svyryd Y, Helmes K, Pérez-Hernández N, Mutchinick OM, Zenteno JC. Chacón-Camacho ÓF, et al. Rev Invest Clin. 2016 Sep-Oct;68(5):269-274. Rev Invest Clin. 2016. PMID: 27941963
BACKGROUND: Okihiro syndrome is an autosomal-dominant condition characterized by radial ray malformations associated with Duane anomaly and other clinical characteristics. SALL4 mutations have been identified in 80-90% of patients with Duane …
BACKGROUND: Okihiro syndrome is an autosomal-dominant condition characterized by radial ray malformations associ …
A de novo mutation of SALL4 in a Chinese family with Okihiro syndrome.
Ma X, Huang R, Li G, Zhang T, Ma J. Ma X, et al. Mol Med Rep. 2022 Apr;25(4):131. doi: 10.3892/mmr.2022.12647. Epub 2022 Feb 18. Mol Med Rep. 2022. PMID: 35179219 Free PMC article.
Okihiro syndrome is an autosomal dominant condition characterized by Duane anomaly and radial ray defects. ...Whole exome sequencing was performed by high-throughput sequencing and mutation sites of the proband and his parents were validated by …
Okihiro syndrome is an autosomal dominant condition characterized by Duane anomaly and radial ray defects …
The teratogenic effects of thalidomide on limbs.
Vargesson N. Vargesson N. J Hand Surg Eur Vol. 2019 Jan;44(1):88-95. doi: 10.1177/1753193418805249. Epub 2018 Oct 18. J Hand Surg Eur Vol. 2019. PMID: 30335598 Review.
This review focuses on the type and range of damage thalidomide caused to the limbs, reviews current understanding of the mechanisms underlying thalidomide-induced limb malformations and outlines some of the challenges remaining in elucidating its teratogenicity....
This review focuses on the type and range of damage thalidomide caused to the limbs, reviews current understanding of the mechanisms underly …
56 results