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Hum Mutat
Macrocephaly and digital anomalies expand the phenotypic spectrum of PGAP2 variants in hyperphosphatasia with impaired intellectual development syndrome 3 (HPMRS3)
- S. Susgun
- A. Ben-Mahmoud
- F. Rüschendorf
- B. Ku
- S.I. Hussain
- S. Schulz
- O. Puk
- S. Biskup
- J.D.J. Labonne
- D.W. Don
- V. Gupta
- T.I. Choi
- S. Khan
- N. Wasif
- Y. Lacassie
- L.C. Layman
- S.A. Ugur Iseri
- C.H. Kim
- H.G. Kim