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* [[Vitamin D]] resistant [[rickets]]: [[X-linked hypophosphatemia]]
* [[Rett syndrome]] (95% of cases are due to sporadic mutations)
*[[Fragile-X Syndrome]]
* Most cases of [[Alport syndrome]]<ref name=pmid14514738>{{cite journal | vauthors = Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Dahan K, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schröder C, Sanak M, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC | display-authors = 6 | title = X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study | journal = Journal of the American Society of Nephrology | volume = 14 | issue = 10 | pages = 2603–10 | date = October 2003 | pmid = 14514738 | doi = 10.1097/01.ASN.0000090034.71205.74 | doi-access = free }}</ref>
* [[Incontinentia pigmenti]]<ref>{{cite web | url = http://dermnetnz.org/systemic/incontinentia-pigmenti.html | title = Incontinentia pigmenti | first = Vanessa | last = Ngan | name-list-style = vanc | publisher = DermNet NZ | date = 2005 }}</ref><ref>{{EMedicine|article|1114205|Incontinentia Pigmenti}}</ref>
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