Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Pomili et al.	2000	Prenat Diagn	1012-1014	20	MASA syndrome: ultrasonographic evidence in a male fetus	11113917

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
n.a.	Intron 26	c.3531-12G>A	p.?	RNA splicing defect	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	3	c.3531-12G>A	p.?	Intron 26	Adducted thumbs, Hydrocephalus, ?	Maternal uncles: MR, SP, AT