Craniofacial Abnormalities
"Craniofacial Abnormalities" 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.
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
Descriptor ID |
D019465
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MeSH Number(s) |
C05.660.207 C16.131.621.207
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Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Craniofacial Abnormalities".
Below are MeSH descriptors whose meaning is more specific than "Craniofacial Abnormalities".
This graph shows the total number of publications written about "Craniofacial Abnormalities" by people in this website by year, and whether "Craniofacial Abnormalities" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2003 | 1 | 0 | 1 |
2008 | 1 | 0 | 1 |
2015 | 1 | 0 | 1 |
2016 | 1 | 0 | 1 |
2018 | 1 | 0 | 1 |
2019 | 1 | 0 | 1 |
2021 | 0 | 1 | 1 |
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Below are the most recent publications written about "Craniofacial Abnormalities" by people in Profiles.
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Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism. Ophthalmic Genet. 2021 06; 42(3):320-325.
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Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features. Mol Genet Genomic Med. 2019 11; 7(11):e969.
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Using human sequencing to guide craniofacial research. Genesis. 2019 01; 57(1):e23259.
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A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. Am J Hum Genet. 2016 06 02; 98(6):1256-1265.
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A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene. Am J Med Genet A. 2016 Feb; 170A(2):487-491.
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Congenital anomalies and early functional impairments in a prospective birth cohort: risk of schizophrenia-spectrum disorder in adulthood. Br J Psychiatry. 2008 Apr; 192(4):264-7.
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Willingness to participate in complementary and alternative medicine clinical trials among patients with craniofacial disorders. J Altern Complement Med. 2003 Jun; 9(3):389-401.