Publication: Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap
Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap
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Harmsen, M. B., Azzarello-Burri, S., García Gonzalez, M. M., Gillessen-Kaesbach, G., Meinecke, P., Müller, D., Rauch, A., Rossier, E., Seemanova, E., Spaich, C., Steiner, B., Wieczorek, D., Zenker, M., & Kutsche, K. (2009). Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. European Journal of Human Genetics, 17, 1207–1215. https://doi.org/10.1038/ejhg.2009.40
Abstract
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Abstract
Focal dermal hypoplasia (FDH) is an X-linked developmental disorder with male lethality characterized by patchy dermal hypoplasia, skeletal and dental malformations, and microphthalmia or anophthalmia. Recently, heterozygous loss-of-function mutations in the PORCN gene have been described to cause FDH. FDH shows some clinical overlap with the microphthalmia with linear skin defects (MLS) syndrome, another X-linked male lethal condition, associated with mutations of HCCS in the majority of cases. We performed DNA sequencing of PORCN in
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- Harmsen, M B
- Azzarello-Burri, S
- García Gonzalez, M M
- Gillessen-Kaesbach, G
- Meinecke, P
- Müller, D
- Rauch, A
- Rossier, E
- Seemanova, E
- Spaich, C
- Steiner, B
- Wieczorek, D
- Zenker, M
- Kutsche, K
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Harmsen, M. B., Azzarello-Burri, S., García Gonzalez, M. M., Gillessen-Kaesbach, G., Meinecke, P., Müller, D., Rauch, A., Rossier, E., Seemanova, E., Spaich, C., Steiner, B., Wieczorek, D., Zenker, M., & Kutsche, K. (2009). Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. European Journal of Human Genetics, 17, 1207–1215. https://doi.org/10.1038/ejhg.2009.40
