"Focal Dermal Hypoplasia" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait.
| Descriptor ID |
D005489
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| MeSH Number(s) |
C05.116.099.370.380 C16.131.077.350.424 C16.131.831.350.424 C16.320.322.186 C16.320.850.250.424 C17.800.804.350.424 C17.800.827.250.424
|
| Concept/Terms |
Focal Dermal Hypoplasia- Focal Dermal Hypoplasia
- Dermal Hypoplasias, Focal
- Focal Dermal Hypoplasias
- Hypoplasia, Focal Dermal
- Hypoplasias, Focal Dermal
- Goltz-Gorlin Syndrome
- Syndrome, Goltz-Gorlin
- Goltz Syndrome
- Syndrome, Goltz
- Goltz Gorlin Syndrome
- Gorlin Syndrome, Goltz
- Syndrome, Goltz Gorlin
- Dermal Hypoplasia, Focal
- Goltz's Syndrome
- Goltzs Syndrome
- Syndrome, Goltz's
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Below are MeSH descriptors whose meaning is more general than "Focal Dermal Hypoplasia".
Below are MeSH descriptors whose meaning is more specific than "Focal Dermal Hypoplasia".
This graph shows the total number of publications written about "Focal Dermal Hypoplasia" by people in this website by year, and whether "Focal Dermal Hypoplasia" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2011 | 1 | 0 | 1 |
| 2014 | 1 | 0 | 1 |
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Below are the most recent publications written about "Focal Dermal Hypoplasia" by people in Profiles.
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Rosti RO, Uyguner ZO, Nazarenko I, Bekerecioglu M, Cadilla CL, Ozgur H, Lee BH, Aggarwal AK, Pehlivan S, Desnick RJ. Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation. Clin Genet. 2015 Nov; 88(5):489-493.
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Franco HL, Casasnovas JJ, Leon RG, Friesel R, Ge Y, Desnick RJ, Cadilla CL. Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin. Int J Biochem Cell Biol. 2011 Oct; 43(10):1523-31.