‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes

The Enigmatic Cytoplasmic Regions of KCNH Channels

(2015) João H. Morais-Cabral et al.   JOURNAL OF MOLECULAR BIOLOGY

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

(2015) Fanny Kortüm et al.   NATURE GENETICS

De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome

(2014) Yongyi Yuan et al.   CELL RESEARCH

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

(2014) Cas Simons et al.   NATURE GENETICS

Report of a patient with Temple-Baraitser syndrome

(2013) Gozde Yesil et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical and genetic study of two patients with Zimmermann–Laband syndrome and literature review

(2013) Marco Castori et al.   European Journal of Medical Genetics

The genetic basis of DOORS syndrome: an exome-sequencing study

(2013) Philippe M Campeau et al.   LANCET NEUROLOGY

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome

(2011) Oscar F. Chacon-Camacho et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Temple-Baraitser syndrome: A rare and possibly unrecognized condition

(2010) Adeline Jacquinet et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

No mutation in genes of the WNT signaling pathway in patients with Zimmermann–Laband syndrome

(2009) Benjamin Abo-Dalo et al.   CLINICAL DYSMORPHOLOGY

A second case of severe mental retardation and absent nails of hallux and pollex (Temple–Baraitser syndrome)

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