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Garbes L, Kim K, Rieß A, Hoyer-Kuhn H, Beleggia F, Bevot A, Kim MJ, Huh YH, Kweon HS, Savarirayan R, Amor D, Kakadia PM, Lindig T, Kagan KO, Becker J, Boyadjiev SA, Wollnik B, Semler O, Bohlander SK9, Kim J13, Netzer C (2015) Mutations in SEC24D, encoding a component of the COPII machinery, cause a
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Rauch F, Fahiminiya S, Majewski J, Carrot-Zhang J, Boudko S, Glorieux F, Mort JS, Bächinger HP, Moffatt P (2015) Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. Am J Hum Genet 96(3):425-431. doi: 10.1016/j.ajhg.2014.12.027
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residues in preprocollagen. Protein transport protein Sec24D is a protein involved in vesicle transport. How mutations in the gene cause disease is not yet clear. Cartilage associated protein is involved in post translation modifications of
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Balasubramanian M, Pollitt RC, Chandler KE, Mughal MZ, Parker MJ, Dalton A, Arundel P, Offiah AC, Bishop NJ (2015) CRTAP mutation in a patient with Cole-Carpenter syndrome. Am J Med Genet A 167A(3):587-91. doi:
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Cole DEC, Carpenter, TO (1987) Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: a newly recognized type of osteogenesis imperfecta. J Pediat 110: 76-80
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is an extremely rare autosomal recessive medical condition in humans. The condition affects less than 10 people worldwide. It is characterised by dysmorphic features and a tendency to fractures.
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The diagnosis may be suspected on the basis of the constellation of clinical features. It is made by sequencing the P4HB, SEC24D and CRTAP genes.
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syndromic form of osteogenesis imperfecta. Am J Hum Genet 96(3):432-439 doi: 10.1016/j.ajhg.2015.01.002. Epub 2015 Feb 12.
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There is no specific treatment for this condition currently known and management of its various features is the norm.
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The third patient (first female) diagnosed with this condition, gene sequencing shows no abnormalities.
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Clinically these forms are very similar and are best differentiated by gene sequencing.
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A third type has been described with a mutation in the cartilage associated protein (
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Autosomal recessive pattern is the inheritance manner of this condition.
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Protein disulfide-isomerase is involved in the hydroxylation of
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Type 2 have mutations in the protein transport protein Sec24D (
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Type 1 has mutations in the protein disulfide-isomerase (
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76:This condition is usually diagnosed in infancy.
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239:This condition was first described in 1987.
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131:There are three forms of this syndrome.
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79:Features of this condition include:
153:) gene located on the long arm of
140:) gene located on the long arm of
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166:) located on the short arm of
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97:Craniofacial abnormalities
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329:C535963 C535963, C535963
221:Osteoglophonic dwarfism
216:Osteogenesis imperfecta
66:Cole–Carpenter syndrome
33:Cole–Carpenter syndrome
18:Cole-Carpenter syndrome
205:Differential diagnosis
112:Marked frontal bossing
288:10.1002/ajmg.a.36916
115:Midface hypoplasia
94:Multiple fractures
72:Signs and symptoms
351:Genetic syndromes
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211:Pfeiffer syndrome
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27:Medical condition
16:(Redirected from
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102:craniosynostosis
58:Medical genetics
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299:Classification
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356:Rare diseases
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142:chromosome 17
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100:Multisutural
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90:Hydrocephalus
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168:chromosome 3
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155:chromosome 4
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119:Micrognathia
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180:Pathogensis
86:Poor growth
83:Short trunk
345:Categories
243:References
170:(3p22.3).
227:Treatment
197:Diagnosis
144:(17q25).
108:proptosis
53:Specialty
191:collagen
157:(4q26).
127:Genetics
235:History
186:proline
106:Ocular
318:112240
150:SEC24D
163:CRTAP
324:MeSH
313:OMIM
137:P4HB
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251:^
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305:D
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