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American Journal of Medical Genetics, Part A 10

Showing records 1 to 10 | Display all abstracts in American Journal of Medical Genetics, Part A

96171 De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype
Safgren SL
American Journal of Medical Genetics, Part A 2022; 188: 919-925

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96172 Identification and functional study of FOXC1 variants in Chinese families with glaucoma
Wang X; Liu X
American Journal of Medical Genetics, Part A 2022; 188: 540-547

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96171 De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype
Olson RJ; Pinto E Vairo F
American Journal of Medical Genetics, Part A 2022; 188: 919-925

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96172 Identification and functional study of FOXC1 variants in Chinese families with glaucoma
Li Y; Yang B
American Journal of Medical Genetics, Part A 2022; 188: 540-547

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96171 De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype
Bothun ED
American Journal of Medical Genetics, Part A 2022; 188: 919-925

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96172 Identification and functional study of FOXC1 variants in Chinese families with glaucoma
Sun X
American Journal of Medical Genetics, Part A 2022; 188: 540-547

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96171 De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype
Hanna C; Klee EW
American Journal of Medical Genetics, Part A 2022; 188: 919-925

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96172 Identification and functional study of FOXC1 variants in Chinese families with glaucoma
Yang P
American Journal of Medical Genetics, Part A 2022; 188: 540-547

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96171 De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype
Schimmenti LA
American Journal of Medical Genetics, Part A 2022; 188: 919-925

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96172 Identification and functional study of FOXC1 variants in Chinese families with glaucoma
Zhong Z; Chen J
American Journal of Medical Genetics, Part A 2022; 188: 540-547

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