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. Author manuscript; available in PMC: 2023 Mar 29.
Published in final edited form as: Am J Med Genet A. 2019 Oct 31;182(1):183–188. doi: 10.1002/ajmg.a.61388

Figure 1:

Figure 1:

Photographs of affected individuals. Patient 1 shows hypertelorism, medial flaring of eyebrows, ptosis, short philtrum, thick vermillion of upper and lower lips (A), skin hyperextensibility (B and C), severe joint hypermobility (D). Patient 2 with no facial dysmorphism (E). Pedigree of the family and electropherograms show c.616C>T in HNRNPH2 in patient 1 and patient 2 in hemizygous and heterozygous state respectively. Parents had wild type allele (F).