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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3

Fig. 1

Clinical summary for the RHDA3 family. a Family pedigree. Cases presenting with unilateral kidney absence are in black. The black arrow denotes the proband. b Ultrasound pictures of patients’ bilateral kidneys. Yellow arrows denote the normal unilateral kidney, while the other unilateral kidney was absent. c Validation of the mutation GREB1L: NM_001142966: c.4507C>T in this family was performed by PCR sequencing. d Multiple sequence alignment of the mutation site for different species (black arrow denotes the position of the variant) (c.4507C>T: p.R1503W)

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172