Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II)

We describe a constellation of distinctive skeletal abnormalities in an 8-year-old boy who presented with the full clinical criteria of oro-facial-digital (OFD) type II (Mohr syndrome): bony changes of obtuse mandibular angle, bimanual hexadactyly and unilateral synostosis of the metacarpo-phalanges...

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Detalles Bibliográficos
Autores principales: Kaissi, Ali Al, Pospischill, Renata, Grill, Franz, Ganger, Rudolf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elmer Press 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4625807/
https://www.ncbi.nlm.nih.gov/pubmed/26566416
http://dx.doi.org/10.14740/jocmr2341w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4625807/
https://www.ncbi.nlm.nih.gov/pubmed/26566416
http://dx.doi.org/10.14740/jocmr2341w

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