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Prenatal cortical hyperostosis with COL1A1 gene mutation
scientific article
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instance of
scholarly article
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title
Prenatal cortical hyperostosis with COL1A1 gene mutation
(English)
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main subject
collagen type I alpha 1 chain
1 reference
stated in
GOA release 2020-03-11
embryonic skeletal system development
1 reference
stated in
GOA release 2020-03-11
author
Martine Le Merrer
series ordinal
7
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Arnold Munnich
series ordinal
6
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author name string
Agnès Kamoun-Goldrat
series ordinal
1
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Jelena Martinovic
series ordinal
2
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Julien Saada
series ordinal
3
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Pascale Sonigo-Cohen
series ordinal
4
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Ferechte Razavi
series ordinal
5
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language of work or name
English
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publication date
15 July 2008
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published in
American Journal of Medical Genetics Part A
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stated in
PubMed
volume
146A
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issue
14
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page(s)
1820-4
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cites work
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FAJMG.A.32351
retrieved
21 January 2018
Perinatal death in two sibs with infantile cortical hyperostosis (Caffey disease)
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FAJMG.A.32351
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Antenatal onset of cortical hyperostosis (Caffey disease): case report and review.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FAJMG.A.32351
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Radiographic, haematological, and biochemical findings in a fetus with Caffey disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FAJMG.A.32351
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Recurrent severe infantile cortical hyperostosis (Caffey disease) in siblings
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FAJMG.A.32351
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Familial infantile cortical hyperostosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FAJMG.A.32351
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Familial infantile cortical hyperostosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FAJMG.A.32351
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Lethal prenatal onset infantile cortical hyperostosis (Caffey disease)
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FAJMG.A.32351
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autosomal dominant inheritance with incomplete penetrance of Caffey disease (infantile cortical hyperostosis)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FAJMG.A.32351
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mucolipidosis II: unusual presentation with a congenital angulated fracture
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FAJMG.A.32351
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The Familial Occurrence of Infantile Cortical Hyperostosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FAJMG.A.32351
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Familial infantile cortical hyperostosis: an update
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FAJMG.A.32351
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/AJMG.A.32351
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PubMed publication ID
18553566
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