A. Turner

Prevalence o f D eafness i n D ogs Heterozygous or Homozygous for t he M erle A llele

K. Murphy, L. A. Clark, J. M. Wahl, 2009 .

Prevalence of deafness in dogs heterozygous or homozygous for the merle allele.

K. Murphy, L. A. Clark, J. M. Wahl, 2009, Journal of veterinary internal medicine.

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa–Kuroki) syndrome

E. Haan, M. Delatycki, A. Bankier, 2004, American journal of medical genetics. Part A.

In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified.

M. Ramsay, T. Jenkins, P. Manga, 2001, American journal of human genetics.

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome.

S. Robertson, F. Bernier, A. Bankier, 1999, American journal of medical genetics.

Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families: linkage and loss of heterozygosity.

E. Haan, G. Chenevix-Trench, D. Ravine, 1993, American journal of human genetics.

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

R. Pfundt, H. Brunner, H. Bokhoven, 2009, Journal of Medical Genetics.

Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature

Lisa T. Emrick, Alyssa A. Tran, J. Rosenfeld, 2018, American journal of medical genetics. Part A.