McKusick–Kaufman syndrome
- McKusick–Kaufman syndrome
-
McKusick–Kaufman syndrome is a genetic condition associated with MKKS.
It is named for Robert Kaufman and Victor McKusick.[1]
See also
External links
References
| v · d · eGenetic disorder, organelle: Ciliopathy |
|
| Structural |
|
|
| Signaling |
|
|
| Other/ungrouped |
|
|
see also ciliary proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk |
|
Wikimedia Foundation.
2010.
Look at other dictionaries:
McKusick-Kaufman syndrome — A genetic disorder in which there is build up of fluids (called hydrometrocolpos) in the vagina and the uterus as a result of a membrane across the vagina which holds back the cervical fluid secreted in response to the mother s hormones during… … Medical dictionary
Syndrome de mckusick kaufman — Autre nom Syndrome hydrohématocolpos polydactylie Référence MIM … Wikipédia en Français
Syndrome de McKusick Kaufman — Référence MIM 236700 Transmission Récessive Chromosome 20p12 Gène MKKS Empreinte parentale Non … Wikipédia en Français
Syndrome, McKusick-Kaufman — A genetic disorder in which there is build up of fluids (called hydrometrocolpos) in the vagina and the uterus as a result of a membrane across the vagina which holds back the cervical fluid secreted in response to the mother s hormones during… … Medical dictionary
Syndrome de pallister-hall — Autre nom Hamartoblastome hypothalamique polydactylie Référence MIM … Wikipédia en Français
Syndrome de Pallister-Hall — Référence MIM 146510 Transmission Dominante Chromosome 7p13 Gène GLI3 Empreinte parentale Non … Wikipédia en Français
McKusick, Victor Almon — ▪ 2009 American physician and genome researcher born Oct. 21, 1921, Parkman, Maine died July 22, 2008, Baltimore, Md. was a pioneer in the study of medical genetics, founding president (1988–91) of HUGO (the Human Genome Organisation), and… … Universalium
Syndrome de bardet-biedl — CIM 10 : Q87.8 Le syndrome de Bardet Biedl est un syndrome qui associe : Une rétinite pigmentaire (toujours) Une obésité (souvent) Une polydactylie post axiale (souvent) Un hypogonadisme hypogonadotrope chez les garçons (parfois) Des… … Wikipédia en Français
Syndrome de Bardet-Biedl — Classification internationale des maladies CIM 10 : Q87.8 Le syndrome de Bardet Biedl est un syndrome qui associe : Une rétinite pigmentaire (toujours) Une obésité (souvent) Une polydactylie post axiale (souvent) Un hypogonadisme… … Wikipédia en Français
Kaufman-McKusick syndrome — a rare autosomal recessive disorder of hydrometrocolpos accompanied by postaxial polydactyly, congenital cardiac defects, and sometimes subsequent bilateral hydronephrosis. Manifestations in males include hypospadias and prominent scrotal raphe.… … Medical dictionary
