Giedion A. Tricho-rhino-phalangeal syndrome [Article in German]. Helv Paediatr Acta. 1966;21:475–85.
CAS
PubMed
Google Scholar
Nardmann J, Tranebjaerg L, Horsthemke B, Lüdecke HJ. The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions. Hum Genet. 1997;99:638–43.
Article
CAS
PubMed
Google Scholar
Niikawa N, Kamei T. The Sugio-Kajii syndrome, proposed tricho-rhino-phalangeal syndrome type III. Am J Med Genet. 1986;24:759–60.
Article
CAS
PubMed
Google Scholar
Giedion A, Burdea M, Fruchter Z, Meloni T, Trosc V. Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases. Helv Paediatr Acta. 1973;28:249–59.
CAS
PubMed
Google Scholar
Momeni P, Glöckner G, Schmidt O, von Holtum D, Albrecht B, Gillessen-Kaesbach G, et al. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino- phalangeal syndrome type I. Nat Genet. 2000;24:71–4.
Article
CAS
PubMed
Google Scholar
Lüdecke HJ, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum, et al. Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet. 2001;68:81–91.
Article
PubMed
Google Scholar
Napierala D, Sam K, Morello R, Zheng Q, Munivez E, Shivdasani RA, Lee B. Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome. Hum Mol Genet. 2008;17:2244–54.
Article
CAS
PubMed
PubMed Central
Google Scholar
Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Hennekam RC. Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. Eur J Med Genet. 2015;58(5):279–92.
Article
PubMed
Google Scholar
Merjaneh L, Parks JS, Muir AB, Fadoju D. A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature. Int J Pediatr Endocrinol. 2014;2014(1):16.
Article
PubMed
PubMed Central
Google Scholar
Sohn YB, Ki CS, Park SW, Cho SY, Ko AR, Kwon MJ, Kim JY, Park HD, Kim OH, Jin DK. Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency. Ann Clin Lab Sci. 2012;42(3):307–12.
PubMed
Google Scholar
Stagi S, Bindi G, Galluzzi F, Lapi E, Salti R, Chiarelli F. Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome. Am J Med Genet A. 2008;146A(12):1598-604.
Sidler JA, Filges I, Boesch N, Ramelli GP, Röthlisberger B, Huber AR, Tercanli S, Bronz L, Miny P, Heinimann K. TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability. Clin Dysmorphol. 2012;21(2):87–90.
Article
PubMed
Google Scholar
Sorting Intolerant From Tolerant. http://sift.jcvi.org. Accessed 26 Jan 2017
Mutation Taster. www.mutationtaster.org. Accessed 26 Jan 2017
Polymorphism Phenotyping v2. http://genetics.bwh.harvard.edu/pph2/. Accessed 26 Jan 2017
Kantaputra P, Miletich I, Lüdecke HJ, Suzuki EY, Praphanphoj V, Shivdasani R, Wuelling M, Vortkamp A, Napierala D, Sharpe PT. Tricho-rhino-phalangeal syndrome with supernumerary teeth. J Dent Res. 2008;87(11):1027–31.
Article
CAS
PubMed
Google Scholar
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24.
Article
PubMed
PubMed Central
Google Scholar
The Exome Aggregation Consortium. http://exac.broadinstitute.org. Accessed 26 Jan 2017
Exome Variant Server. http://evs.gs.washington.edu/EVS/. Accessed 26 Jan 2017
Single Nucleotide Polymorphism Database. http://www.ncbi.nlm.nih.gov/SNP/. Accessed 26 Jan 2017
Langer Jr LO. The thoracic-pelvic-phalangeal dystrophy. Birth Defects OAS. 1969;5(4):55–64.
Google Scholar
Gorlin RJ, Cohen Jr MM, Wolfson J. Tricho-rhino-phalangeal syndrome. Am J Dis Child. 1969;118:595–9.
Article
CAS
PubMed
Google Scholar
Nagai T, Nishimura G, Kasai H, Hasegawa T, Kato R, Ohashi H, Fukushima Y. Another family with tricho-rhino-phalangeal syndrome type III (Sugio-Kajii syndrome). Am J Med Genet. 1994;49:278–80.
Article
CAS
PubMed
Google Scholar
Vilain C, Sznajer Y, Rypens F, Desir D, Abramowicz MJ. Sporadic case of trichorhinophalangeal syndrome type III in a European patient. Am J Med Genet. 1999;85:495–7.
Article
CAS
PubMed
Google Scholar
Parkhurst RD, Light GS, Bacon GE, Gall Jr JC. Tricho-rhino-phalangeal syndrome with hypoglycemia: case report with endocrine function studies. South Med J. 1972;65:457-59.
Walravens PA, Hambridge KM, Wesenberg RI, Greensher A. Endocrine and radiological abnormalities associated with the tricho-rhino-phalangeal (TRP) syndrome [abstract]. Clin Res. 1975; 23147A.
Seitz CS, Lüdecke HJ, Wagner N, Bröcker EB, Hamm H. Trichorhinophalangeal syndrome type I: clinical and molecular characterization of 3 members of a family and 1 sporadic case. Arch Dermatol. 2001;137(11):1437–42.
Article
CAS
PubMed
Google Scholar
Shibata A, Tanahashi K, Sugiura K, Akiyama M. TRPS1 Haploinsufficiency Results in Increased STAT3 and SOX9 mRNA Expression in Hair Follicles in Trichorhinophalangeal Syndrome. Acta Derm Venereol. 2015;95(5):620–1.
Article
PubMed
Google Scholar
Suemoto H, Muragaki Y, Nishioka K, Sato M, Ooshima A, Itoh S, et al. Trps1 regulates proliferation and apoptosis of chondrocytes through Stat3 signaling. Dev Biol. 2007;312:572–81.
Article
CAS
PubMed
Google Scholar
Gai Z, Gui T, Muragaki Y. The function of TRPS1 in the development and differentiation of bone, kidney, and hair follicles. Histol Histopathol. 2011;26:915–21.
CAS
PubMed
Google Scholar
Hilton MJ, Sawyer JM, Gutierrez L, et al. Analysis of novel and recurrent mutationsresponsible for the tricho-rhino-phalangeal syndromes. J Hum Genet. 2002;47:103–6.
Article
CAS
PubMed
Google Scholar
Chen LH, Ning CC, Chao SC. Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients. Br J Dermatol. 2010;163:416–9.
Article
CAS
PubMed
Google Scholar
Vora NS, Shah S, Dave JN, et al. Trichorhinophalangeal syndrome type I. Indian J Dermatol Venereol Leprol. 1995;61:111–2.
CAS
PubMed
Google Scholar
Hussels IE. Trichorhinophalangeal syndrome in two sibs. Birth Defects Orig Artic Ser. 1971;7:301–3.
CAS
PubMed
Google Scholar
Corsini C, Gencik M, Willems M, Decker E, Sanchez E, Puechberty J, Schneider A, Girard M, Edery P, Bretonnes P, Cottalorda J, Lefort G, Jeandel C, Sarda P, Genevieve D. Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling. Eur J Hum Genet. 2014;22(1):136–9.
Article
CAS
PubMed
Google Scholar