Tricho–rhino–phalangeal syndrome
Tricho–rhino–phalangeal syndrome |
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Classification and external resources |
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OMIM |
190350 |
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Tricho–rhino–phalangeal syndrome (also known as Langer-Giedion syndrome) is a genetic disorder consisting of fine and sparse scalp hair, thin nails, pear-shaped broad nose, and cone-shaped epiphyses of the middle phalanges of some fingers and toes.[1]:578[2]
It has been associated with TRPS1.[3]
See also
References
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 716. ISBN 1-4160-2999-0.
- ↑ Momeni P, Glöckner G, Schmidt O et al. (January 2000). "Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I". Nat. Genet. 24 (1): 71–4. doi:10.1038/71717. PMID 10615131.
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| (1) Basic domains | |
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| (2) Zinc finger DNA-binding domains | |
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| (3) Helix-turn-helix domains | |
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| (4) β-Scaffold factors with minor groove contacts | |
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| (0) Other transcription factors | |
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| Ungrouped | |
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| Transcription coregulators | |
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| Index of genetics |
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| Description |
- Gene expression
- DNA
- replication
- cycle
- recombination
- repair
- binding proteins
- Transcription
- factors
- regulators
- nucleic acids
- RNA
- RNA binding proteins
- ribonucleoproteins
- repeated sequence
- modification
- Translation
- ribosome
- modification
- nexins
- Proteins
- domains
- Structure
- primary
- secondary
- tertiary
- quaternary
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| Disease |
- Replication and repair
- Transcription factor
- Transcription
- Translation
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