Focal dermal hypoplasia
Encyclopedia
Focal dermal hypoplasia (also known as "Goltz syndrome") is a form of ectodermal dysplasia
.
It is also known as Goltz-Gorlin syndrome, after Robert Goltz and Robert Gorlin.
It has been associated with PORCN
, on the X chromosome
.
Ectodermal dysplasia
Ectodermal dysplasia is not a single disorder, but a group of syndromes all deriving from abnormalities of the ectodermal structures. More than 150 different syndromes have been identified. Despite some of the syndromes having different genetic causes the symptoms are sometimes very similar...
.
It is also known as Goltz-Gorlin syndrome, after Robert Goltz and Robert Gorlin.
It has been associated with PORCN
PORCN
PORCN is a human gene.-Function:The protein encoded by this gene an endoplasmic reticulum transmembrane protein involved in processing of wingless proteins such as WNT7A....
, on the X chromosome
X chromosome
The X chromosome is one of the two sex-determining chromosomes in many animal species, including mammals and is common in both males and females. It is a part of the XY sex-determination system and X0 sex-determination system...
.
External links
- http://www.orpha.net/consor/www/cgi-bin/OC_Exp.php?lng=EN&Expert=2092
- GeneReview/NIH/UW entry on Focal dermal hypoplasia