TY  - GEN
AU  - Reinstein,Eyal
AU  - Frentz,Sophia
AU  - Morgan,Tim
AU  - García-Miñaúr,Sixto
AU  - Leventer,Richard J
AU  - McGillivray,George
AU  - Pariani,Mitchel
AU  - van der Steen,Anthony
AU  - Pope,Michael
AU  - Holder-Espinasse,Muriel
AU  - Scott,Richard
AU  - Thompson,Elizabeth M
AU  - Robertson,Terry
AU  - Coppin,Brian
AU  - Siegel,Robert
AU  - Bret Zurita,Montserrat
AU  - Rodríguez,Jose I
AU  - Morales,Carmen
AU  - Rodrigues,Yuri
AU  - Arcas,Joaquín
AU  - Saggar,Anand
AU  - Horton,Margaret
AU  - Zackai,Elaine
AU  - Graham,John M
AU  - Rimoin,David L
AU  - Robertson,Stephen P
TI  - Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A
SN  - 1476-5438
PY  - 2013///1017
KW  - Arteries
KW  - pathology
KW  - Base Sequence
KW  - Blotting, Western
KW  - Cohort Studies
KW  - Connective Tissue
KW  - Contractile Proteins
KW  - genetics
KW  - Ehlers-Danlos Syndrome
KW  - Female
KW  - Filamins
KW  - Humans
KW  - Immunohistochemistry
KW  - Joint Instability
KW  - Male
KW  - Microfilament Proteins
KW  - Molecular Sequence Data
KW  - Mutation
KW  - New Zealand
KW  - Periventricular Nodular Heterotopia
KW  - Sequence Analysis, DNA
KW  - Skin
N1  - Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ejhg.2012.209
ER  -