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American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2017, Volume 173, Issue 12, pp. 3172 - 3181
Journal Article
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 05/2016, Volume 11, Issue 1, p. 62
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 11/2013, Volume 21, Issue 11, pp. 1232 - 1239
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 11/2013, Volume 28, Issue 11, pp. 1500 - 1504
Hereditary spastic paraplegias and related genetically heterogeneous disorders may be difficult to distinguish clinically. The FA2H gene has been associated... 
FA2H | leukodystrophy | spastic paraparesis with dystonia | SPG35 | hereditary spastic paraplegia | HSP | FORM | PEDIATRICS | CLINICAL NEUROLOGY
Journal Article
Clinical Dysmorphology, ISSN 0962-8827, 10/2018, Volume 27, Issue 4, pp. 116 - 121
We report on a family with three siblings, male and female, affected by congenital bilateral limitation of vocal cord abduction, with the additional finding of... 
familial | vocal cord paresis | vocal cord paralysis | clubfeet | syndrome | equinovarus deformity | FOLD PARALYSIS | FEMALES | GENE | MUTATION | GENETICS & HEREDITY | LARYNGEAL-ABDUCTOR PARALYSIS | INHERITANCE | Care and treatment | Genetic aspects | Research | Gene expression | Laryngeal diseases
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2016, Volume 170, Issue 9, pp. 2440 - 2444
Journal Article