A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder

17q12 Microduplications: A challenge for clinicians

(2015) V. Bertini et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Diagnosis and management of primary ciliary dyskinesia

(2014) J. S. Lucas et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Laterality Defects Other Than Situs Inversus Totalis in Primary Ciliary Dyskinesia

(2014) Adam J Shapiro et al.   CHEST

Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population

(2014) Jillian P Casey et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Defects in Laterality with Emphasis on Heterotaxy Syndromes with Asplenia and Polysplenia: An Autopsy Case Series at a Single Institution

(2014) Elizabeth C. Burton et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

Expanding the phenotype associated with 17q12 duplication: Case report and review of the literature

(2013) Tatjana Bierhals et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia

(2013) G. D'Andrea et al.   BLOOD

Complex autism spectrum disorder in a patient with a 17q12 microduplication

(2012) Tracy Brandt et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

(2012) Jennifer R Panizzi et al.   NATURE GENETICS

A 17q12 chromosomal duplication associated with renal disease and esophageal atresia

(2011) Stanislas Faguer et al.   European Journal of Medical Genetics

A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies

(2010) Rossella Caselli et al.   European Journal of Medical Genetics

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

(2009) Sandesh Chakravarthy Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Private inherited microdeletion/microduplications: Implications in clinical practice

(2008) Maria Antonietta Mencarelli et al.   European Journal of Medical Genetics