Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Panayi et al	2005	Prenat Diagn	930-933	25(10)	Prenatal diagnosis in a family with X-linked hydrocephalus	16088863

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
n.a.	Intron 1	c.77-?_591delins41	p.?	Deletion	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	1	c.77-?_591delins41	p.?	Intron 1	Adducted thumbs, Hydrocephalus	Terminated pregnancy at 24 weeks