Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: Clinical, pathological, and molecular findings

2007 ◽  
Vol 143A (10) ◽  
pp. 1120-1125 ◽  
Author(s):  
Adrián Mariño-Enríquez ◽  
Pablo Lapunzina ◽  
Stephen P. Robertson ◽  
José I. Rodríguez
Keyword(s):  
Syndrome Type ◽  
Filamin A ◽  
Otopalatodigital Syndrome

Filamin A Group

2012 ◽  
pp. 93-111
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Type A ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Syndrome Type ◽  
Filamin A ◽  
Radiographic Features ◽  
Otopalatodigital Syndrome

Chapter 22 covers Type A filaminopathies and related disorders (otopalatodigital syndrome type 1 (MIM 311300), otopalatodigital syndrome type 2 (MIM304120), Melnick-Needles osteodysplasty (MIM 309350), frontometaphyseal dysplasia (MIM 305620), Frank-Ter Harr syndrome (MIM 249420)), including major clinical findings, radiographic features, and differential diagnoses.

scholarly journals Linkage of Otopalatodigital Syndrome Type 2 (OPD2) to Distal Xq28: Evidence for Allelism with OPD1

2001 ◽  
Vol 69 (1) ◽  
pp. 223-227 ◽  
Author(s):  
Stephen P. Robertson ◽  
Sinead Walsh ◽  
Michael Oldridge ◽  
Tania Gunn ◽  
David Becroft ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Otopalatodigital Syndrome

scholarly journals Otopalatodigital syndrome type 2 in a male infant: A case report with a novel sequence variation

2015 ◽  
Vol 02 (01) ◽  
pp. 033-036
Author(s):  
Dalibor Kurepa ◽  
Yiping Shen ◽  
Venkatakrishna Kakkilaya ◽  
Sussone Ursin ◽  
Harold Chen ◽  
...  
Keyword(s):  
Case Report ◽  
Sequence Variation ◽  
Male Infant ◽  
Syndrome Type ◽  
Otopalatodigital Syndrome

Oro facial digital syndrome type 2- An Indian case report

2016 ◽  
Vol 3 (4) ◽  
pp. 115
Author(s):  
Naresh Bansal ◽  
Ashok Gupta ◽  
Manisha Goyal ◽  
Manish Sharma ◽  
Priyanshu Mathur ◽  
...  
Keyword(s):  
Case Report ◽  
Syndrome Type
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