The Coffin-Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases

Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate

(2011) Trilochan Sahoo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome

(2010) Miles D. Thompson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Coffin-Siris syndrome: data on mental development, language, behavior and social skills in 12 children

(2010) Ann Swillen et al.   CLINICAL GENETICS

The Coffin-Siris syndrome: Report of a family and further delineation

(2010) M. Haspeslagh et al.   CLINICAL GENETICS

Choanal atresia in two unrelated patients with the Coffin-Siris syndrome

(2010) G. Jong et al.   CLINICAL GENETICS

Coffin–Siris syndrome with multiple congenital malformations and intrauterine death: Towards a better delineation of the severe end of the spectrum

(2010) Béma Coulibaly et al.   European Journal of Medical Genetics

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

(2010) Peter M Krawitz et al.   NATURE GENETICS

Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2

(2009) Katarina Dathe et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nicolaides-Baraitser syndrome: Delineation of the phenotype

(2009) Sérgio B. Sousa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Is this the Coffin-Siris syndrome or the BOD syndrome?

(2009) Ariel Brautbar et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

NEUROBLASTOMA IN A PATIENT WITH COFFIN-SIRIS SYNDROME

(2009) Daniel Pollono et al.   Fetal and Pediatric Pathology

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

(2009) T. H. Shaikh et al.   GENOME RESEARCH

Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome

(2008) Anwar Baban et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A