| Authors | Alina Badina, Zagorka Pejin, Thierry Odent, Alexandru Buzescu, Céline Huber, Valérie Cormier-Daire, Christophe Glorion, Stéphanie Pannier |
| Journal | Clinical dysmorphology
(Clin Dysmorphol)
Vol. 20
Issue 2
Pg. 114-116
(Apr 2011)
ISSN: 1473-5717 [Electronic] England |
| PMID | 21383554
(Publication Type: Case Reports, Journal Article)
|
| Chemical References |
- CUL7 protein, human
- Cullin Proteins
|
| Topics |
- Abnormalities, Multiple
(diagnosis)
- Bone and Bones
(abnormalities)
- Child, Preschool
- Consanguinity
- Cullin Proteins
(genetics)
- Diagnostic Errors
- Dwarfism
(diagnosis, genetics)
- Face
(abnormalities)
- Female
- Hip Dislocation, Congenital
(diagnosis, surgery)
- Humans
- Infant
- Infant, Low Birth Weight
- Infant, Newborn
- Intellectual Disability
(diagnosis, genetics)
- Joint Instability
(congenital)
- Male
- Muscle Hypotonia
(diagnosis, genetics)
- Mutation, Missense
- Spine
(abnormalities)
|
