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Wieczorek, Dagmar ; Gener, Blanca ; González, Ma Jesús Martínez ; Seland, Saskia ; Fischer, Sven ; Hehr, Ute ; Kuechler, Alma ; Hoefsloot, Lies H. ; de Leeuw, Nicole ; Gillessen‐Kaesbach, Gabriele ; Lohmann, Dietmar R.

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome

Wieczorek, Dagmar, Gener, Blanca, González, Ma Jesús Martínez, Seland, Saskia, Fischer, Sven, Hehr, Ute, Kuechler, Alma, Hoefsloot, Lies H., de Leeuw, Nicole, Gillessen‐Kaesbach, Gabriele and Lohmann, Dietmar R. (2009) Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome. American Journal of Medical Genetics Part A 149A (5), pp. 837-843.

Date of publication of this fulltext: 19 Dec 2024 12:06
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Item typeArticle
Journal or Publication TitleAmerican Journal of Medical Genetics Part A
Publisher:WILEY-LISS
Place of Publication:HOBOKEN
Volume:149A
Number of Issue or Book Chapter:5
Page Range:pp. 837-843
Date2009
InstitutionsMedicine > Lehrstuhl für Humangenetik
Identification Number
ValueType
10.1002/ajmg.a.32747DOI
KeywordsCHARGE-SYNDROME; MENTAL-RETARDATION; MUTATIONS; GENE; EXCLUSION; SPECTRUM; TRANSLOCATION; DIAGNOSIS; DELETION; REVEALS; mandibulo-facial dysostosis; microcephaly; developmental delay; microtia; choanal atresia
Dewey Decimal Classification600 Technology > 610 Medical sciences Medicine
StatusPublished
RefereedYes, this version has been refereed
Created at the University of RegensburgYes
Item ID67173

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