Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome

Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome

(2011) Daphne Lehalle et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria

(2011) Giuseppe Marangi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems

(2011) Adriana Lo-Castro et al.   European Journal of Medical Genetics

Mosaic microdeletion 18q21 as a cause of mental retardation

(2010) Dimitri J. Stavropoulos et al.   European Journal of Medical Genetics

aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy

(2009) Aaron Theisen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hyperventilation and the Pitt-Hopkins syndrome

(2009) Robert Ouvrier   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

TCF4Deletions in Pitt-Hopkins Syndrome

(2008) Irina Giurgea et al.   HUMAN MUTATION