-
Donnai–Barrow
syndrome is a
genetic disorder first described by Dian
Donnai and
Margaret Barrow in 1993. It is ****ociated with LRP2. It is an inherited...
- Al-Gazali-
Donnai-Mueller syndrome, also
known as Hirschsprung's disease,
hypoplastic nails, and
minor dysmorphic features syndrome is a rare and deadly...
-
ectopic (displaced) eye. In some cases, Widow's
peaks are a
symptom of
Donnai-Barrow syndrome, a rare
genetic disorder caused by
mutations in the LRP2...
-
Professor Dian
Donnai CBE, FRCP, FRCOG,
FMedSci (born 1945) is a
British medical geneticist.
Donnai studied at St Mary's
Hospital Medical School, then...
- Jehee,
Fernanda S.; Perlyn, Chad A.; Alonso, Luís G.; Bueno,
Daniela F.;
Donnai, Dian; Josifiova, Dragana; Mathijssen,
Irene M. J.; Morton,
Jenny E. V.;...
- A; Carette, MJ; Grant, J; Dennis, N; Reardon, W; Splitt, M; Read, AP;
Donnai, D (January 1999). "Williams syndrome: use of
chromosomal microdeletions...
-
types 1B and 2E
Developmental and
epileptic encephalopathy, 48, 75, and 80
Donnai-Barrow
syndrome Ehlers-Danlos syndrome,
spondylodysplastic type, 1 and 2...
- Gianfrancesco, F; Ciccodicola, A; d'Urso, M; Woffendin, Hayley; Jakins, T;
Donnai, D; Stewart, H; Kenwrick, S. J; Aradhya, Swaroop; Yamagata, T; Levy, M;...
- AIs can be
obtained from GestaltMatcher.[citation needed] Reardon, W.;
Donnai, D. (2007). "Dysmorphology demystified".
Archives of
Disease in Childhood:...
- D-2-hydroxyglutaric
aciduria Deficiency of alpha-mannosidase
Desmosterolosis Donnai-Barrow
syndrome Early-onset parkinsonism-intellectual
disability syndrome...
