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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 type | Article | ||||
| Journal or Publication Title | American 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 | ||||
| Date | 2009 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
| Identification Number |
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| Keywords | CHARGE-SYNDROME; MENTAL-RETARDATION; MUTATIONS; GENE; EXCLUSION; SPECTRUM; TRANSLOCATION; DIAGNOSIS; DELETION; REVEALS; mandibulo-facial dysostosis; microcephaly; developmental delay; microtia; choanal atresia | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 67173 |
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