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Brunner syndrome
- ... cannot pass X-linked traits to their sons. Brunner syndrome Deficiency of monoamine oxidase A X-linked monoamine oxidase deficiency Genetic Testing Registry: Brunner syndrome Monoamine oxidase A deficiency National Organization for Rare ...
- ... each cell is sufficient to cause the disorder. Brunner-Winter syndrome Microcephaly-mesobrachyphalangy-tracheoesophageal fistula (MMT) syndrome Microcephaly-oculo- ...
- The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males. ...
- ... VM, Gecz J, Field M. New insights into Brunner syndrome and potential for targeted therapy. Clin Genet. 2016 ...
- ... have been found to cause the Maat-Kievit-Brunner type of Ohdo syndrome, which is a rare condition characterized by intellectual ... The mutations that result in the Maat-Kievit-Brunner type of Ohdo syndrome change the structure of the MED12 gene, impairing ...
- Developmental Disabilities (National Library of Medicine)Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disabilities. ...
- ... Crisponi G, Kayserili H, Yates JR, Neri G, Brunner HG. p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split ...
- ... Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication ...
- ... AW, Morrison N, Keijzers-Vloet ST, Hoischen A, Brunner HG, Tolmie J, Kleefstra T. Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34. ...
- ... AW, Morrison N, Keijzers-Vloet ST, Hoischen A, Brunner HG, Tolmie J, Kleefstra T. Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34. ...