1q24 deletion syndrome. Two cases and new insights into genotype-phenotype correlations

1q24 deletion syndrome. Two cases and new insights into genotype-phenotype correlations

1q24q25 deletions cause a distinctive phenotype including proportionate short stature, microcephaly, brachydactyly, dysmorphic facial features and intellectual disability. We present a mother and son who have a 672 kb microdeletion at 1q24q25. They have the typical skeletal features previously descr...

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Bibliografiske detaljer
Main Authors:	Lefroy, H, Fox, O, Javaid, M, Makaya, T, Shears, D
Format:	Journal article
Sprog:	English
Udgivet:	Wiley 2018

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