Combined pituitary hormone deficiency with or without cerebellar defects is an autosomal dominant disorder caused by mutations of the LHX4 gene. Besides the deficiency in all pituitary hormones and short stature cerebellar defects may be detectable.
1. |
Machinis K et al. (2001) Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. |
3. |
Pfaeffle RW et al. (2008) Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies. |
4. |
Ferrier PE et al. (1969) Familial pituitary dwarfism associated with an abnormal sella turcica. |
5. |
OMIM.ORG article Omim 262700 |