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Inherited Na transport disorders: the taming of the syndromes.
Vehaskari VM. Vehaskari VM. Curr Opin Pediatr. 2004 Apr;16(2):182-7. doi: 10.1097/00008480-200404000-00012. Curr Opin Pediatr. 2004. PMID: 15021199 Review.
SUMMARY: Genetic and molecular diagnosis will have an expanding role in the understanding and management of the Na transport disorders. Predicting prognosis and inheritance pattern, as well as treatment plans will in the future be based on genetic diagnosis....
SUMMARY: Genetic and molecular diagnosis will have an expanding role in the understanding and management of the Na transport disorders. P …
Arthrogryposis multiplex congenita, craniofacial, and ophthalmological abnormalities and normal intelligence: a new syndrome?
al-Ghamdi MA, Polomeno RC, Chitayat D, Azouz EM, Teebi AS. al-Ghamdi MA, et al. Am J Med Genet. 1997 Sep 5;71(4):401-5. doi: 10.1002/(sici)1096-8628(19970905)71:4<401::aid-ajmg6>3.0.co;2-w. Am J Med Genet. 1997. PMID: 9286445
There was no intrauterine growth retardation or decreased fetal movements. Despite the poor prognosis expected in early life, the patient presented with normal mental capability on follow-up. ...
There was no intrauterine growth retardation or decreased fetal movements. Despite the poor prognosis expected in early life, the pat …
Diagnostic considerations in arthrogryposis syndromes in South Africa.
Gericke GS, Hall JG, Nelson MM, Beighton PH. Gericke GS, et al. Clin Genet. 1984 Feb;25(2):155-62. Clin Genet. 1984. PMID: 6538466
Many distinct syndromes present in this way and as they differ in their course, prognosis and genetic implications, diagnostic precision is crucial. ...
Many distinct syndromes present in this way and as they differ in their course, prognosis and genetic implications, diagnostic …