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Severe primary microcephaly

MedGen UID:
832921
Concept ID:
CN228308
Finding

Professional guidelines

PubMed

Dawood M, Akay G, Mitani T, Marafi D, Fatih JM, Gezdirici A, Najmabadi H, Kahrizi K, Punetha J, Grochowski CM, Du H, Jolly A, Li H, Coban-Akdemir Z, Sedlazeck FJ, Hunter JV, Jhangiani SN, Muzny D, Pehlivan D, Posey JE, Carvalho CMB, Gibbs RA, Lupski JR
Am J Med Genet A 2023 Mar;191(3):794-804. Epub 2023 Jan 4 doi: 10.1002/ajmg.a.63080. PMID: 36598158Free PMC Article
Duerinckx S, Désir J, Perazzolo C, Badoer C, Jacquemin V, Soblet J, Maystadt I, Tunca Y, Blaumeiser B, Ceulemans B, Courtens W, Debray FG, Destree A, Devriendt K, Jansen A, Keymolen K, Lederer D, Loeys B, Meuwissen M, Moortgat S, Mortier G, Nassogne MC, Sekhara T, Van Coster R, Van Den Ende J, Van der Aa N, Van Esch H, Vanakker O, Verhelst H, Vilain C, Weckhuysen S, Passemard S, Verloes A, Aeby A, Deconinck N, Van Bogaert P, Pirson I, Abramowicz M
Mol Genet Genomic Med 2021 Sep;9(9):e1768. Epub 2021 Aug 17 doi: 10.1002/mgg3.1768. PMID: 34402213Free PMC Article
Paquet C, Yudin MH; Society of Obstetricians and Gynaecologists of Canada
J Obstet Gynaecol Can 2013 Jan;35(1):78-81. doi: 10.1016/s1701-2163(15)31053-7. PMID: 23343802

Recent clinical studies

Diagnosis

Shaheen R, Al-Salam Z, El-Hattab AW, Alkuraya FS
Am J Med Genet A 2016 Dec;170(12):3222-3226. Epub 2016 Aug 2 doi: 10.1002/ajmg.a.37877. PMID: 27480277

Prognosis

Shaheen R, Hashem A, Abdel-Salam GM, Al-Fadhli F, Ewida N, Alkuraya FS
Hum Genet 2016 Oct;135(10):1191-7. Epub 2016 Aug 8 doi: 10.1007/s00439-016-1722-2. PMID: 27503289

Clinical prediction guides

Shaheen R, Hashem A, Abdel-Salam GM, Al-Fadhli F, Ewida N, Alkuraya FS
Hum Genet 2016 Oct;135(10):1191-7. Epub 2016 Aug 8 doi: 10.1007/s00439-016-1722-2. PMID: 27503289

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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