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Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3.
Zapata-Aldana E, Kim DD, Remtulla S, Prasad C, Nguyen CT, Campbell C. Zapata-Aldana E, et al. Eur J Med Genet. 2019 Apr;62(4):273-277. doi: 10.1016/j.ejmg.2018.08.004. Epub 2018 Aug 11. Eur J Med Genet. 2019. PMID: 30103036 Review.
Deleterious homozygous or compound heterozygous mutations in the TBCK (TBC1-domain-containing kinase) gene (implicated in the MTOR pathway) produce profound hypotonia, global developmental delay, facial dysmorphic features, and brain abnormalities. The disorder …
Deleterious homozygous or compound heterozygous mutations in the TBCK (TBC1-domain-containing kinase) gene (implicated in the MTOR pathway) …
Marinesco-Sjogren syndrome in a male with mild dysmorphism.
Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E. Slavotinek A, et al. Am J Med Genet A. 2005 Mar 1;133A(2):197-201. doi: 10.1002/ajmg.a.30504. Am J Med Genet A. 2005. PMID: 15633176 Review.
Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and …
Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebel …
Fryns syndrome survivors and neurologic outcome.
Van Hove JL, Spiridigliozzi GA, Heinz R, McConkie-Rosell A, Iafolla AK, Kahler SG. Van Hove JL, et al. Am J Med Genet. 1995 Nov 20;59(3):334-40. doi: 10.1002/ajmg.1320590311. Am J Med Genet. 1995. PMID: 8599357 Review.
Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by diaphragmatic hernia, unusual facies, and distal limb hypoplasia. ...Characteristics of survivors include less frequent diaphragmatic hernia and milder lung hypoplasia, ab …
Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by diaphragmatic hernia, unusual facie …