TY  - GEN
AU  - Onoufriadis,Alexandros
AU  - Nanda,Arti
AU  - Sheriff,Adam
AU  - Tomita,Kenji
AU  - Gomaa,Nesrin S
AU  - Simpson,Michael A
AU  - McGrath,John A
TI  - Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1)
SN  - 2168-6084
PY  - 2019///1017
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Consanguinity
KW  - Cutis Laxa
KW  - congenital
KW  - Follow-Up Studies
KW  - Genes, Recessive
KW  - Genetic Counseling
KW  - Humans
KW  - Infant
KW  - Male
KW  - Mutation
KW  - Nephrotic Syndrome
KW  - diagnosis
KW  - Pedigree
KW  - Pyrroline Carboxylate Reductases
KW  - delta-1-Pyrroline-5-Carboxylate Reductase
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1001/jamadermatol.2018.4665
ER  -