Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations

Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature

(2016) Shagun Aggarwal et al.   European Journal of Medical Genetics

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection

(2016) Adi Aran et al.   NEUROLOGY

Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum

(2014) Mahmoud F. Elsaid et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel rearrangement of occludin causes brain calcification and renal dysfunction

(2013) Marissa A. LeBlanc et al.   HUMAN GENETICS

Recognizable phenotypes associated with intracranial calcification

(2012) JOHN H LIVINGSTON et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

(2011) Hanan Hamamy et al.   GENETICS IN MEDICINE

Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

(2010) Mary C. O'Driscoll et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

(2010) Ganeshwaran H. Mochida et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Band-like intracranial calcification (BIC), microcephaly and malformation of brain development: A distinctive form of congenital infection like syndromes

(2009) Ghada M.H. Abdel-Salam et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct “pseudo-TORCH” phenotype

(2008) T.A. Briggs et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microcephaly, malformation of brain development and intracranial calcification in sibs: Pseudo-TORCH or a new syndrome

(2008) Ghada M.H. Abdel-Salam et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A