New N-terminal located mutation (Q4ter) within the POU1F1-gene (PIT-1) causes recessive combined pituitary hormone deficiency and variable phenotype.

doi:10.1016/s1096-6374(03)00015-7

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Article

New N-terminal located mutation (Q4ter) within the POU1F1-gene (PIT-1) causes recessive combined pituitary hormone deficiency and variable phenotype.

Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society - 1 Oct 2003

Salemi Souzan, Besson Amélie, Eblé Andrée, Gallati Sabina, Pfäffle Roland W, Mullis Primus E

Abstract excerpt

OBJECTIVE: Growth is an inherent property of life. About 10% of the congenital forms of growth retardation and short stature are genetically caused. Beside the gene involved in direct GH-production, there are different candidate genes important for appropriate pituitary development causing combined pituitary hormone deficiency (CPHD). However, severe growth retardation and failure to thrive remain the leading...

Topics

Adolescent
Amino Acid Sequence
Child
Child, Preschool
Consanguinity
DNA-Binding Proteins
Female
Growth Disorders
Human Growth Hormone
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Malaysia

Male

Molecular Sequence Data

Phenotype

Pituitary Hormones

Point Mutation

Transcription Factor Pit-1

Transcription Factors

Source

Open in PubMed

Identifiers

PMID: 12932747
DOI: 10.1016/s1096-6374(03)00015-7

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