J Pediatr Genet 2014; 03(03): 163-166
DOI: 10.3233/PGE-14093
Georg Thieme Verlag KG Stuttgart – New York
Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene
Virendra Mehar
a
Department of Pediatrics, Division of Neonatology, Sri Aurobindo Institute of Medical Sciences, Indore, Madhya Pradesh, India
,
Dinesh Yadav
a
Department of Pediatrics, Division of Neonatology, Sri Aurobindo Institute of Medical Sciences, Indore, Madhya Pradesh, India
,
Ravindra Kumar
b
Central Research Laboratory, Sri Aurobindo Institute of Medical Sciences, Indore, Madhya Pradesh, India
,
Summi Yadav
c
Department of Gynecology, Sri Aurobindo Institute of Medical Sciences, Indore, Madhya Pradesh, India
,
Kuldeep Singh
a
Department of Pediatrics, Division of Neonatology, Sri Aurobindo Institute of Medical Sciences, Indore, Madhya Pradesh, India
,
Bert Callewaert
d
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
,
Shahnawaz Pathan
a
Department of Pediatrics, Division of Neonatology, Sri Aurobindo Institute of Medical Sciences, Indore, Madhya Pradesh, India
,
Anne De Paepe
d
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
,
Paul J. Coucke
d
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
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