Mutation of FGFR3 in a Patient with Craniosynostosis, Hypochondroplasia and Growth Hormone Deficiency

M. Coco,; T. Mattina,; M. Mancuso,; A. Zingale,; M. Baffico,; M. Caruso-Nicoletti,

doi:10.1515/IJDHD.2003.3.3-4.151

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Mutation of FGFR3 in a Patient with Craniosynostosis, Hypochondroplasia and Growth Hormone Deficiency

M. Coco, , T. Mattina, , M. Mancuso, , A. Zingale, , M. Baffico, und M. Caruso-Nicoletti,

Veröffentlicht/Copyright: 1. Oktober 2003

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Aus der Zeitschrift International Journal on Disability and Human Development Band 3 Heft 3-4

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Coco,, M., Mattina,, T., Mancuso,, M., Zingale,, A., Baffico,, M. and Caruso-Nicoletti,, M.. "Mutation of FGFR3 in a Patient with Craniosynostosis, Hypochondroplasia and Growth Hormone Deficiency" International Journal on Disability and Human Development, vol. 3, no. 3-4, pp. 151-156. https://doi.org/10.1515/IJDHD.2003.3.3-4.151

Coco,, M., Mattina,, T., Mancuso,, M., Zingale,, A., Baffico,, M. & Caruso-Nicoletti,, M. (). Mutation of FGFR3 in a Patient with Craniosynostosis, Hypochondroplasia and Growth Hormone Deficiency. International Journal on Disability and Human Development, 3(3-4), 151-156. https://doi.org/10.1515/IJDHD.2003.3.3-4.151

Coco,, M., Mattina,, T., Mancuso,, M., Zingale,, A., Baffico,, M. and Caruso-Nicoletti,, M. () Mutation of FGFR3 in a Patient with Craniosynostosis, Hypochondroplasia and Growth Hormone Deficiency. International Journal on Disability and Human Development, Vol. 3 (Issue 3-4), pp. 151-156. https://doi.org/10.1515/IJDHD.2003.3.3-4.151

Coco,, M., Mattina,, T., Mancuso,, M., Zingale,, A., Baffico,, M. and Caruso-Nicoletti,, M.. "Mutation of FGFR3 in a Patient with Craniosynostosis, Hypochondroplasia and Growth Hormone Deficiency" International Journal on Disability and Human Development 3, no. 3-4 (): 151-156. https://doi.org/10.1515/IJDHD.2003.3.3-4.151

Coco, M, Mattina, T, Mancuso, M, Zingale, A, Baffico, M, Caruso-Nicoletti, M. Mutation of FGFR3 in a Patient with Craniosynostosis, Hypochondroplasia and Growth Hormone Deficiency. International Journal on Disability and Human Development. ;3(3-4): 151-156. https://doi.org/10.1515/IJDHD.2003.3.3-4.151

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Published Online: 2003-10

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CONTENTS
Letter from the Editor
Obituary - Dr. Jean Pierre Luton (1933-2002)
Role of the Transcription Factor CREB (cAMP Response Element Binding Protein) in Endocrine Tissue Development and Tumorigenesis
The Genetics of Autoimmune Thyroid Disease
A Novel Insertional Mutation in the Mu-Opioid Receptor Gene is Associated with Altered Cortisol Response to Naloxone
Mutations in the TTF2 Gene are Not a Common Finding in Patients with Isolated Cleft Palate and Choanal Atresia
Effect of Exogenous Insulin-like Growth Factor-I (IGF-I) on the Expression of the IGF-I Gene and the Genes of IGF-Binding Proteins (IGFBPs) 1-4 in Human Thyroid Cells from Nodular Goiter, Follicular Adenoma and Follicular Carcinoma Cultured in Monolayers
Mutation of FGFR3 in a Patient with Craniosynostosis, Hypochondroplasia and Growth Hormone Deficiency
Clinical, Genetic and Endocrine Aspects of a Patient with 45,X/48,XYYY Mosaicism: Patient Report and Review of the Literature
No Evidence for a Role of Genomic Variants in CIT1 in the Etiology of Silver-Russell Syndrome
BOOK REVIEWS. CALENDAR. INDEX

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https://doi.org/10.1515/IJDHD.2003.3.3-4.151

Artikel in diesem Heft

CONTENTS
Letter from the Editor
Obituary - Dr. Jean Pierre Luton (1933-2002)
Role of the Transcription Factor CREB (cAMP Response Element Binding Protein) in Endocrine Tissue Development and Tumorigenesis
The Genetics of Autoimmune Thyroid Disease
A Novel Insertional Mutation in the Mu-Opioid Receptor Gene is Associated with Altered Cortisol Response to Naloxone
Mutations in the TTF2 Gene are Not a Common Finding in Patients with Isolated Cleft Palate and Choanal Atresia
Effect of Exogenous Insulin-like Growth Factor-I (IGF-I) on the Expression of the IGF-I Gene and the Genes of IGF-Binding Proteins (IGFBPs) 1-4 in Human Thyroid Cells from Nodular Goiter, Follicular Adenoma and Follicular Carcinoma Cultured in Monolayers
Mutation of FGFR3 in a Patient with Craniosynostosis, Hypochondroplasia and Growth Hormone Deficiency
Clinical, Genetic and Endocrine Aspects of a Patient with 45,X/48,XYYY Mosaicism: Patient Report and Review of the Literature
No Evidence for a Role of Genomic Variants in CIT1 in the Etiology of Silver-Russell Syndrome
BOOK REVIEWS. CALENDAR. INDEX