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1 Ergebnisse
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Male child with somatic mosaic Osteopathia Striata with Cra..:
Hague, Jennifer
;
Delon, Isabelle
;
Brugger, Kim
...
American Journal of Medical Genetics Part A. 173 (2017) 7 - p. 1931-1935 , 2017
Link:
https://doi.org/10.1002/ajmg.a.38261
RT Journal T1
Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.38261&Exemplar=1&LAN=DE A1 Hague, Jennifer A1 Delon, Isabelle A1 Brugger, Kim A1 Martin, Howard A1 Sparnon, Leanne A1 Simonic, Ingrid A1 Abbs, Stephen A1 Park, Soo‐Mi PB Wiley YR 2017 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 173 IS 7 SP 1931 OP 1935 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.38261 DO https://doi.org/10.1002/ajmg.a.38261 SF ELIB - SuUB Bremen
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