A novel mutation, IVS13+5G>A, in Ellis-van Creveld syndrome associated with haemophagocytic lymphohistiocytosis.
Department of Oral and Maxillofacial Surgery, Ege University Faculty of Dentistry Department of Medical Genetics, Ege University Faculty of Medicine Department of Medical Genetics, Dr Behcet Uz Children's Hospital Molecular Genetics Laboratory, CSS-Mendel Institute, Rome, Italy Department of Pediatric Hematology, Ege University Faculty of Medicine, Izmir Pediatric Hematology, Dr Behcet Uz Children's Hospital, Izmir, Turkey.
Mert
M
Zeytinoglu
Ayca
A
Aykut
Filiz
F
Hazan
Isabella
I
Torrente
Mehmet C
MC
Akay
Deniz Y
DY
Karapinar
Canan
C
Vergin
Ozgur
O
Cogulu
Ferda
F
Ozkinay
D002675:Child, Preschool; D004613:Ellis-Van Creveld Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005121:Extremities / Q000473:pathology; D006801:Humans; D051359:Lymphohistiocytosis, Hemophagocytic / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009306:Natal Teeth / Q000473:pathology
D008565:Membrane Proteins; C507969:UNC13D protein, human