Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes

Eitemau Tebyg

• Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11
  gan: Sandre-Giovannoli, A, et al.
  Cyhoeddwyd: (2005)
• Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes
  gan: Aldred, M, et al.
  Cyhoeddwyd: (2004)
• Surgical management of hypotropia in congenital fibrosis of extraocular muscles (CFEOM) presented by pseudoptosis
  gan: Tawfik, Hatem A, et al.
  Cyhoeddwyd: (2013)
• Selective aplasia of global fibres of all extraocular muscles in congenital fibrosis of extraocular muscles (CFEOM): a rare presentation
  gan: Saini, Manu, et al.
  Cyhoeddwyd: (2017)
• Common variants at 2q37.3, 8q24.21, 15q21.3, and 16q24.1 influence chronic lymphocytic leukemia risk
  gan: Crowther-Swanepoel, Dalemari, et al.
  Cyhoeddwyd: (2010)