Focal dermal hypoplasia

Focal dermal hypoplasia

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 29896
ICD10 = ICD10|Q|82|8|q|80
ICD9 = ICD9|759.89
ICDO =
OMIM = 305600
MedlinePlus =
eMedicineSubj = derm
eMedicineTopic = 155
MeshID = D005489

Focal dermal hypoplasia is a form of ectodermal dysplasia.

It is also known as Goltz-Gorlin syndrome, after Robert Goltz and Robert Gorlin. [WhoNamedIt|synd|1370]

It has been associated with PORCN, on the X chromosome.cite journal |author=Wang X, Reid Sutton V, Omar Peraza-Llanes J, "et al" |title=Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia |journal=Nat. Genet. |volume=39 |issue=7 |pages=836–8 |year=2007 |month=July |pmid=17546030 |doi=10.1038/ng2057 |url=http://dx.doi.org/10.1038/ng2057]

References

External links

* http://www.orpha.net/consor/www/cgi-bin/OC_Exp.php?lng=EN&Expert=2092


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