-
GeneReviews is an
online database containing standardized peer-
reviewed articles that
describe specific heritable diseases. It was
established in 1997...
- PMC 1049945. PMID 3572995. Lyons, M (1993). "MED12-Related Disorders".
GeneReviews.
University of Washington, Seattle. PMID 20301719.
Retrieved 6 September...
- PMID 21922596. "MATN3
review". "SLC26A2
solute carrier family 26".
Pagon RA, Bird TD,
Dolan CR, et al., editors.
GeneReviews™ [Internet].
Seattle (WA):...
-
Spectrum Disorder".
GeneReviews. PMID 20301686. Dore; et al. (January 1987). "Cleidocranial
Dysostosis and
Syringomyelia Review of the
Literature and...
- Nikki; Mefford,
Heather C.; Smith,
Richard J.H.; Stephens,
Karen (eds.).
GeneReviews.
University of Washington, Seattle. PMID 20301673 – via PubMed. "Questions...
-
Everman DB,
Mirzaa GM,
Pagon RA,
Wallace SE (eds.). "Angelman Syndrome".
GeneReviews. Seattle:
University of Washington, Seattle. PMID 20301323. Retrieved...
- N; Mefford, HC; Smith, RJH; Stephens, K (2013). "Williams Syndrome".
GeneReviews. PMID 20301427. Reference,
Genetics Home (December 2014). "Williams syndrome"...
-
Gripp KW,
Amemiya A (1993).
Pagon RA, Bird TD,
Dolan CR, et al. (eds.).
GeneReviews [Internet].
Seattle WA:
University of Washington, Seattle. PMID 20301295...
- "Holoprosencephaly Overview". In Adam MP,
Ardinger HH,
Pagon RA,
Wallace SE (eds.).
GeneReviews®.
Seattle (WA):
University of Washington, Seattle. PMID 20301702. Retrieved...
- by a
variety of
recessively inherited mutations in the XK
gene on the X chromosome. The
gene is
responsible for
producing the Kx protein, a
secondary supportive...