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Treacher Collins syndrome: clinical implications for the paediatrician—a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature
Schlump, Jan-Ulrich, Stein, Anja, Hehr, Ute, Karen, Tanja, Möller-Hartmann, Claudia, Elcioglu, Nursel H., Bogdanova, Nadja, Woike, Hartmut Fritz, Lohmann, Dietmar R.
, Felderhoff-Mueser, Ursula, Linz, Annette and Wieczorek, Dagmar
(2012)
Treacher Collins syndrome: clinical implications for the paediatrician—a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature.
European Journal of Pediatrics 171 (11), pp. 1611-1618.
Date of publication of this fulltext: 19 Dec 2024 09:34
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| Item type | Article | ||||
| Journal or Publication Title | European Journal of Pediatrics | ||||
| Publisher: | SPRINGER | ||||
|---|---|---|---|---|---|
| Place of Publication: | NEW YORK | ||||
| Volume: | 171 | ||||
| Number of Issue or Book Chapter: | 11 | ||||
| Page Range: | pp. 1611-1618 | ||||
| Date | 2012 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
| Identification Number |
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| Keywords | UPPER AIRWAY-OBSTRUCTION; MANDIBULAR DISTRACTION; GENE-PRODUCT; SLEEP-APNEA; TCOF1; PATHOGENESIS; ETIOLOGY; REVEALS; INFANTS; CELLS; Treacher Collins syndrome; Franceschetti syndrome; Severe phenotype; TCOF1 mutation | ||||
| 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 | 63220 |
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