Novel no-stop FLNA mutation causes multi-organ involvement in males

Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia

(2013) Burkhard S. Kasper et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

(2012) Eyal Reinstein et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Atypical male and female presentations of FLNA-related periventricular nodular heterotopia

(2012) Patricia Fergelot et al.   European Journal of Medical Genetics

Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations

(2012) Christine S. van der Werf et al.   GENETICS IN MEDICINE

Familial cardiac valvulopathy due to filamin A mutation

(2011) Jonathan A. Bernstein et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males

(2011) Elena Parrini et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

CLMP Is Required for Intestinal Development, and Loss-of-Function Mutations Cause Congenital Short-Bowel Syndrome

(2011) Christine S. Van Der Werf et al.   GASTROENTEROLOGY

Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene

(2010) Yu Sun et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diffuse Abnormal Layering of Small Intestinal Smooth Muscle is Present in Patients With FLNA Mutations and X-linked Intestinal Pseudo-obstruction

(2010) Raj P. Kapur et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation

(2010) Alice Masurel-Paulet et al.   European Journal of Medical Genetics

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

(2008) Jill Clayton-Smith et al.   EUROPEAN JOURNAL OF HUMAN GENETICS