 Dwarfism
"Dwarfism" 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.
A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
| Descriptor ID |
D004392
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| MeSH Number(s) |
C05.116.099.343 C16.320.240 C19.297
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Dwarfism".
Below are MeSH descriptors whose meaning is more specific than "Dwarfism".
This graph shows the total number of publications written about "Dwarfism" by people in this website by year, and whether "Dwarfism" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1992 | 1 | 0 | 1 | | 2002 | 1 | 0 | 1 | | 2005 | 1 | 0 | 1 | | 2006 | 0 | 1 | 1 | | 2007 | 1 | 0 | 1 | | 2013 | 0 | 1 | 1 | | 2014 | 1 | 0 | 1 | | 2015 | 0 | 1 | 1 | | 2016 | 1 | 0 | 1 | | 2017 | 1 | 0 | 1 | | 2020 | 1 | 0 | 1 |
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Below are the most recent publications written about "Dwarfism" by people in Profiles.
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Gileta AF, Helgeson ML, Leonard JMM, Pyle LC, Subramanian HP, Arndt K, Hawkes CP, Del Gaudio D. Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants. Am J Med Genet A. 2021 03; 185(3):889-893.
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Xue Q, Yang JF, Li B, He TC, Zhang BQ. [Regulatory effect of faciogenital dysplasia 6 gene on hepatic stem cell differentiation]. Zhonghua Gan Zang Bing Za Zhi. 2017 Apr 20; 25(4):268-272.
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Teo M, Johnson JN, Bell-Stephens TE, Marks MP, Do HM, Dodd RL, Bober MB, Steinberg GK. Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies. J Neurosurg Pediatr. 2016 Dec; 25(6):717-723.
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Di Donato N, Neuhann T, Kahlert AK, Klink B, Hackmann K, Neuhann I, Novotna B, Schallner J, Krause C, Glass IA, Parnell SE, Benet-Pages A, Nissen AM, Berger W, Altmüller J, Thiele H, Weber BH, Schrock E, Dobyns WB, Bier A, Rump A. Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. J Med Genet. 2016 06; 53(6):419-25.
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Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, Liu Y, Cochran M, Abbott MA, Atkin J, Babovic-Vuksanovic D, Barnett CP, Crenshaw M, Bartholomew DW, Basel L, Bellus G, Ben-Shachar S, Bialer MG, Bick D, Blumberg B, Cortes F, David KL, Destree A, Duat-Rodriguez A, Earl D, Escobar L, Eswara M, Ezquieta B, Frayling IM, Frydman M, Gardner K, Gripp KW, Hernández-Chico C, Heyrman K, Ibrahim J, Janssens S, Keena BA, Llano-Rivas I, Leppig K, McDonald M, Misra VK, Mulbury J, Narayanan V, Orenstein N, Galvin-Parton P, Pedro H, Pivnick EK, Powell CM, Randolph L, Raskin S, Rosell J, Rubin K, Seashore M, Schaaf CP, Scheuerle A, Schultz M, Schorry E, Schnur R, Siqveland E, Tkachuk A, Tonsgard J, Upadhyaya M, Verma IC, Wallace S, Williams C, Zackai E, Zonana J, Lazaro C, Claes K, Korf B, Martin Y, Legius E, Messiaen L. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. Hum Mutat. 2015 Nov; 36(11):1052-63.
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Mirzaa GM, Vitre B, Carpenter G, Abramowicz I, Gleeson JG, Paciorkowski AR, Cleveland DW, Dobyns WB, O'Driscoll M. Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. Hum Genet. 2014 Aug; 133(8):1023-39.
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Mis EK, Liem KF, Kong Y, Schwartz NB, Domowicz M, Weatherbee SD. Forward genetics defines Xylt1 as a key, conserved regulator of early chondrocyte maturation and skeletal length. Dev Biol. 2014 Jan 01; 385(1):67-82.
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Bober MB, Khan N, Kaplan J, Lewis K, Feinstein JA, Scott CI, Steinberg GK. Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype. . 2010 Apr; 152A(4):960-5.
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O'Driscoll M, Dobyns WB, van Hagen JM, Jeggo PA. Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling. Am J Hum Genet. 2007 Jul; 81(1):77-86.
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Martin RD, Maclarnon AM, Phillips JL, Dobyns WB. Flores hominid: new species or microcephalic dwarf? Anat Rec A Discov Mol Cell Evol Biol. 2006 Nov; 288(11):1123-45.
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