Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

Ghasemi MR, Fateh ST, Ben-Mahmoud A, Gupta V, Stühn LG, Lesca G, Chatron N, Platzer K, Edery P, Sadeghi H, Isidor B, Cogné B, Schulz HL, Krauspe-Stübecke I, Periyasamy R, Nampoothiri S, Mirfakhraie R, Alijanpour S, Syrbe S, Pfeifer U, Spranger S, Grundmann-Hauser K, Haack TB, Papadopoulou MT, da Silva Gonçalves T, Panagiotakaki E, Arzimanoglou A, Tonekaboni SH, Rossi M, Korenke GC, Lacassie Y, Jang MH, Layman LC, Miryounesi M, Kim HG

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DOI: 10.1002/ajmg.a.63963
Published: 2025 May
Container: American journal of medical genetics. Part A
Publisher: Not recorded
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1002/ajmg.a.63963,
  title = {Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).},
  author = {Ghasemi MR and Fateh ST and Ben-Mahmoud A and Gupta V and Stühn LG and Lesca G and Chatron N and Platzer K and Edery P and Sadeghi H and Isidor B and Cogné B and Schulz HL and Krauspe-Stübecke I and Periyasamy R and Nampoothiri S and Mirfakhraie R and Alijanpour S and Syrbe S and Pfeifer U and Spranger S and Grundmann-Hauser K and Haack TB and Papadopoulou MT and da Silva Gonçalves T and Panagiotakaki E and Arzimanoglou A and Tonekaboni SH and Rossi M and Korenke GC and Lacassie Y and Jang MH and Layman LC and Miryounesi M and Kim HG},
  year = {2025},
  journal = {American journal of medical genetics. Part A},
  doi = {10.1002/ajmg.a.63963},
  url = {https://doi.org/10.1002/ajmg.a.63963}
}

RIS

TY  - JOUR
TI  - Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).
AU  - Ghasemi MR
AU  - Fateh ST
AU  - Ben-Mahmoud A
AU  - Gupta V
AU  - Stühn LG
AU  - Lesca G
AU  - Chatron N
AU  - Platzer K
AU  - Edery P
AU  - Sadeghi H
AU  - Isidor B
AU  - Cogné B
AU  - Schulz HL
AU  - Krauspe-Stübecke I
AU  - Periyasamy R
AU  - Nampoothiri S
AU  - Mirfakhraie R
AU  - Alijanpour S
AU  - Syrbe S
AU  - Pfeifer U
AU  - Spranger S
AU  - Grundmann-Hauser K
AU  - Haack TB
AU  - Papadopoulou MT
AU  - da Silva Gonçalves T
AU  - Panagiotakaki E
AU  - Arzimanoglou A
AU  - Tonekaboni SH
AU  - Rossi M
AU  - Korenke GC
AU  - Lacassie Y
AU  - Jang MH
AU  - Layman LC
AU  - Miryounesi M
AU  - Kim HG
PY  - 2025
JO  - American journal of medical genetics. Part A
DO  - 10.1002/ajmg.a.63963
UR  - https://doi.org/10.1002/ajmg.a.63963
ER  -

APA

MR, G., ST, F., A, B., V, G., LG, S., G, L., N, C., K, P., P, E., H, S., B, I., B, C., HL, S., I, K., R, P., S, N., R, M., S, A., S, S., U, P., S, S., K, G., TB, H., MT, P., T, D. S. G., E, P., A, A., SH, T., M, R., GC, K., Y, L., MH, J., LC, L., M, M., & HG, K. (2025). Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).. American journal of medical genetics. Part A. https://doi.org/10.1002/ajmg.a.63963

Source records

pubmed · retrieved 2026-09-27T09:51:31.550Z