Bi-allelic loss-of-function variants of FILIP1 encoding a filamin A binding protein cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

F Schnabel; E Schuler; A Al-Maawali; A Chaurasia; S Syrbe; A Al-Kindi; GSL Bhavani; A Shukla; J Altmüller; P Nürnberg; S Banka; K Girisha; Y Li; B Wollnik; G Yigit

Bi-allelic loss-of-function variants of FILIP1 encoding a filamin A binding protein cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

F Schnabel, E Schuler, A Al-Maawali, A Chaurasia, S Syrbe, A Al-Kindi, GSL Bhavani, A Shukla, J Altmüller, P Nürnberg, S Banka, K Girisha, Y Li, B Wollnik, G Yigit

Research output: Contribution to journal › Meeting Abstract › peer-review

Original language	English
Pages (from-to)	520-520
Number of pages	1
Journal	European Journal of Human Genetics
Volume	32
Publication status	Published - Jan 2024

Cite this

Schnabel, F., Schuler, E., Al-Maawali, A., Chaurasia, A., Syrbe, S., Al-Kindi, A., Bhavani, GSL., Shukla, A., Altmüller, J., Nürnberg, P., Banka, S., Girisha, K., Li, Y., Wollnik, B., & Yigit, G. (2024). Bi-allelic loss-of-function variants of FILIP1 encoding a filamin A binding protein cause autosomal recessive arthrogryposis multiplex congenita with microcephaly. European Journal of Human Genetics, 32, 520-520.

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title = "Bi-allelic loss-of-function variants of FILIP1 encoding a filamin A binding protein cause autosomal recessive arthrogryposis multiplex congenita with microcephaly",

author = "F Schnabel and E Schuler and A Al-Maawali and A Chaurasia and S Syrbe and A Al-Kindi and GSL Bhavani and A Shukla and J Altm{\"u}ller and P N{\"u}rnberg and S Banka and K Girisha and Y Li and B Wollnik and G Yigit",

year = "2024",

month = jan,

language = "English",

volume = "32",

pages = "520--520",

journal = "European Journal of Human Genetics",

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publisher = "Springer Nature",

}

Schnabel, F, Schuler, E, Al-Maawali, A, Chaurasia, A, Syrbe, S, Al-Kindi, A, Bhavani, GSL, Shukla, A, Altmüller, J, Nürnberg, P, Banka, S, Girisha, K, Li, Y, Wollnik, B & Yigit, G 2024, 'Bi-allelic loss-of-function variants of FILIP1 encoding a filamin A binding protein cause autosomal recessive arthrogryposis multiplex congenita with microcephaly', European Journal of Human Genetics, vol. 32, pp. 520-520.

TY - JOUR

T1 - Bi-allelic loss-of-function variants of FILIP1 encoding a filamin A binding protein cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

AU - Schnabel, F

AU - Schuler, E

AU - Al-Maawali, A

AU - Chaurasia, A

AU - Syrbe, S

AU - Al-Kindi, A

AU - Bhavani, GSL

AU - Shukla, A

AU - Altmüller, J

AU - Nürnberg, P

AU - Banka, S

AU - Girisha, K

AU - Li, Y

AU - Wollnik, B

AU - Yigit, G

PY - 2024/1

Y1 - 2024/1

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M3 - Meeting Abstract

SN - 1018-4813

VL - 32

SP - 520

EP - 520

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

ER -

Bi-allelic loss-of-function variants of FILIP1 encoding a filamin A binding protein cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

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