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Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2.
Kantaputra PN, Dejkhamron P, Intachai W, Ngamphiw C, Kawasaki K, Ohazama A, Krisanaprakornkit S, Olsen B, Tongsima S, Ketudat Cairns JR. Kantaputra PN, et al. Eur J Orthod. 2021 Jan 29;43(1):45-50. doi: 10.1093/ejo/cjaa023. Eur J Orthod. 2021. PMID: 32255174
Parents were heterozygous for the mutation. The mutation is predicted to cause premature stop codon p.Arg552Ter. Mutations in ESCO2, a gene involved in cohesin complex formation, are known to cause Roberts/SC phocomelia syndrome. Roberts/SC p …
Parents were heterozygous for the mutation. The mutation is predicted to cause premature stop codon p.Arg552Ter. Mutations in ESCO2, …
Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations.
Robins DB, Ladda RL, Thieme GA, Boal DK, Emanuel BS, Zackai EH. Robins DB, et al. Am J Med Genet. 1989 Mar;32(3):390-4. doi: 10.1002/ajmg.1320320325. Am J Med Genet. 1989. PMID: 2658590 Review.
We describe 2 sibs with Roberts-SC phocomelia syndrome. Although an ultrasound scan performed at 13 weeks of gestation failed to identify specific abnormalities, repeat scan at 17 weeks detected tetraphocomelia. ...Postmortem examination of the proposita conf …
We describe 2 sibs with Roberts-SC phocomelia syndrome. Although an ultrasound scan performed at 13 weeks of gestation …
Roberts-SC phocomelia syndrome with exencephaly.
Verloes A, Herens C, Van Maldergem L, Retz MC, Dodinval P. Verloes A, et al. Ann Genet. 1989;32(3):169-70. Ann Genet. 1989. PMID: 2817778
We report a 18 weeks old fetus with the typical limb reduction anomalies of SC phocomelia syndrome, associated with exencephaly and unilateral anophthalmia, a feature previously reported in only 2 cases of severe Roberts syndrome. This observation brin …
We report a 18 weeks old fetus with the typical limb reduction anomalies of SC phocomelia syndrome, associated with exe …
The SC phocomelia syndrome: report of two cases with cytogenetic abnormality.
Qazi QH, Kassner EG, Masakawa A, Madahar C, Choi SJ. Qazi QH, et al. Am J Med Genet. 1979;4(3):231-8. doi: 10.1002/ajmg.1320040305. Am J Med Genet. 1979. PMID: 517578
We report two sibs with the SC phocomelia syndrome with typical facial appearance and bilateral absence or extreme hypoplasia of the fibula, radius, and thumb. ...Chromosome analyses in both patients showed heterochromatic puffing and centromere separation in …
We report two sibs with the SC phocomelia syndrome with typical facial appearance and bilateral absence or extreme hypo …
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.
Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH. Gripp KW, et al. Am J Med Genet. 1999 Jan 15;82(2):170-6. doi: 10.1002/(sici)1096-8628(19990115)82:2<170::aid-ajmg14>3.0.co;2-x. Am J Med Genet. 1999. PMID: 9934984
It is thought to be a rare autosomal recessive condition, which, in some patients, presents with additional abnormalities, such as polymicrogyria, mental retardation or anal atresia. A phenotypic overlap of Baller-Gerold and Roberts-SC phocomelia syndrome was …
It is thought to be a rare autosomal recessive condition, which, in some patients, presents with additional abnormalities, such as polymicro …
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodríguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. Deardorff MA, et al. Am J Hum Genet. 2007 Mar;80(3):485-94. doi: 10.1086/511888. Epub 2007 Jan 17. Am J Hum Genet. 2007. PMID: 17273969 Free PMC article.
Mutations in the cohesin regulators NIPBL and ESCO2 are causative of the Cornelia de Lange syndrome (CdLS) and Roberts or SC phocomelia syndrome, respectively. Recently, mutations in the cohesin complex structural component SMC1A have been identified in two p …
Mutations in the cohesin regulators NIPBL and ESCO2 are causative of the Cornelia de Lange syndrome (CdLS) and Roberts or SC phoco …