X-linked dominant inheritance: Difference between revisions

Revision as of 15:38, 28 March 2025

Revision as of 08:55, 22 April 2025

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* [[Vitamin D]] resistant [[rickets]]: [[X-linked hypophosphatemia]]

* [[Rett syndrome]] (95% of cases are due to sporadic mutations(not inherited))

* [[Fragile-X Syndromesyndrome]]

* 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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* [[Goltz syndrome]]

* X-linked dominant [[porphyria]]<ref name=pmid24131146>{{cite journal | vauthors = Seager MJ, Whatley SD, Anstey AV, Millard TP | title = X-linked dominant protoporphyria: a new porphyria | journal = Clinical and Experimental Dermatology | volume = 39 | issue = 1 | pages = 35–7 | date = January 2014 | pmid = 24131146 | doi = 10.1111/ced.12202 }}</ref>

* [[Aicardi Syndromesyndrome]]

== See also ==