NM_000501.4:c.631C>T

Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
219100.2.1	Lebanon	2	Pathogenic	Cutis Laxa, Autosomal Recessive, Type IA	Mégarbané et al, 2009	Homozygous mutation in ELN. Phenotype mo...
219100.2.2	Lebanon	2	Pathogenic	Cutis Laxa, Autosomal Recessive, Type IA	Mégarbané et al, 2009	Sibling of 219100.2.1
219100.2.3	Lebanon	1	Pathogenic		Mégarbané et al, 2009	Mother of 219100.2.1
219100.2.4	Lebanon	1	Pathogenic		Mégarbané et al, 2009	Father of 219100.2.1
219100.3.1	Lebanon	2	Pathogenic	Cutis Laxa, Autosomal Recessive, Type IA	Mégarbané et al, 2009
219100.3.2	Lebanon	2	Pathogenic	Cutis Laxa, Autosomal Recessive, Type IA	Mégarbané et al, 2009	First cousin of 219100.3.1

Epidemiology in the Arab World