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A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.
Iida A, Takano K, Takeshita E, Abe-Hatano C, Hirabayashi S, Inaba Y, Kosugi S, Kamatani Y, Momozawa Y, Kubo M, Nakagawa E, Inoue K, Goto YI. Iida A, et al. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a003988. doi: 10.1101/mcs.a003988. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31444167 Free PMC article. Review.
We used the exome sequencing to identify the causative gene in the patients and identified a hemizygous missense variant, c.1282T>A (p.W428R), in the p21-activated serine/threonine kinase 3 gene (PAK3), which is associated with X-linked ID. p.W428R is located wit …
We used the exome sequencing to identify the causative gene in the patients and identified a hemizygous missense variant, c.1282T>A (p.W4 …
Thyroid hormone cell membrane transport defect.
Ramos HE. Ramos HE. Endocr Dev. 2014;26:108-17. doi: 10.1159/000363158. Epub 2014 Aug 29. Endocr Dev. 2014. PMID: 25231447 Review.
The hereditary pattern of MCT8 mutations is X chromosome linked, with males presenting a homogeneous neurological psychomotor phenotype and mental retardation associated with low serum thyroxine and elevated triiodothyronine levels. ...
The hereditary pattern of MCT8 mutations is X chromosome linked, with males presenting a homogeneous neurological psychomotor phenotype and …
Dopamine function in Lesch-Nyhan disease.
Nyhan WL. Nyhan WL. Environ Health Perspect. 2000 Jun;108 Suppl 3(Suppl 3):409-11. doi: 10.1289/ehp.00108s3409. Environ Health Perspect. 2000. PMID: 10852837 Free PMC article. Review.
It is characterized by hyperuricemia and all of its consequences, as in gout; but in addition, patients have impressive disease of the central nervous system. This includes spasticity, involuntary movements, and retardation of motor development. The behavioral phenotype is …
It is characterized by hyperuricemia and all of its consequences, as in gout; but in addition, patients have impressive disease of the centr …
Problem behavior in boys with fragile X syndrome.
Hatton DD, Hooper SR, Bailey DB, Skinner ML, Sullivan KM, Wheeler A. Hatton DD, et al. Am J Med Genet. 2002 Mar 1;108(2):105-16. doi: 10.1002/ajmg.10216. Am J Med Genet. 2002. PMID: 11857559 Review.
[The genetic diagnosis of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency. A study of 12 cases].
Torres Jiménez R, Mateos Antón F, Molano Mateos J, García Puig J. Torres Jiménez R, et al. Med Clin (Barc). 1997 Mar 8;108(9):344-8. Med Clin (Barc). 1997. PMID: 9139158 Review. Spanish.
Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency is transmitted as an X-linked recessive trait. Female carriers are asymptomatic and the carrier diagnosis is usually performed by determining HGPRT activity in hair roots. ...
Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency is transmitted as an X-linked recessive trait. Female carrie …