Hyophysenhormonmangel Typ 2

McKusick VA et al. (1967) General Tom Thumb and other midgets.

Voutetakis A et al. (2004) Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe.

None (1964) STUDIES IN ISOLATES.

KIRCHHOFF HW et al. (1954) [Clinical, hereditary and constitutional studies of primordial dwarfs].

None (1953) [The role of hereditary factors in growth disorders].

Sadeghi-Nejad A et al. (1974) A familial syndrome of isolated "aplasia" of the anterior pituitary. Diagnostic studies and treatment in the neonatal period.

Pinto G et al. (1997) Pituitary stalk interruption syndrome: a clinical-biological-genetic assessment of its pathogenesis.

Rosenfield RL et al. (1967) Idiopathic anterior hypopituitarism in one of monozygous twins.

None (1969) Congenital absence of hypoplasia of the endocrine glands.

Steiner MM et al. (1965) Absence of pituitary gland, hypothyroidism, hypoadrenalism and hypogonadism in a 17-year-old dwarf.

Reynaud R et al. (2004) A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies.

Böttner A et al. (2004) PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis.

Lee JK et al. (2004) Long-term growth hormone therapy in adulthood results in significant linear growth in siblings with a PROP-1 gene mutation.

Vallette-Kasic S et al. (2001) PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency.

Riepe FG et al. (2001) Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation.

Agarwal G et al. (2000) Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion.

Pernasetti F et al. (2000) Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene.

Mendonca BB et al. (1999) Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene.

Rosenbloom AL et al. (1999) Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene.

Flück C et al. (1998) Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C).

Cogan JD et al. (1998) The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency.

Fofanova O et al. (1998) Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency.

Wu W et al. (1998) Mutations in PROP1 cause familial combined pituitary hormone deficiency.

McArthur RG et al. (1985) The natural history of familial hypopituitarism.

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