Severe SHOX gene haploinsufficiency in a girl with a novel mutation (M1T) involving the first codon of coding region.

Authors :: Wasniewska M
Raiola G
Nicoletti A
Galati MC
Messina MF
Mirabelli S
De Luca F
Source :: Journal of endocrinological investigation [J Endocrinol Invest] 2010 Apr; Vol. 33 (4), pp. 282-3. Date of Electronic Publication: 2009 Jul 28.
Publication Year :: 2010

Subjects :: Base Sequence
Child
DNA Mutational Analysis
Female
Humans
Osteochondrodysplasias pathology
Osteochondrodysplasias physiopathology
Short Stature Homeobox Protein
Codon
Homeodomain Proteins genetics
Mutation
Osteochondrodysplasias genetics

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