scholarly journals Phenotypic expansion of the BPTF ‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

2021 ◽  
Author(s):  
Kevin E. Glinton ◽  
Anna C. E. Hurst ◽  
Kevin M. Bowling ◽  
Ingrid Cristian ◽  
Devon Haynes ◽  
...  
Keyword(s):  
Neurodevelopmental Disorder ◽  
Distal Limb ◽  
Limb Anomalies

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome

2019 ◽  
Vol 95 (4) ◽  
pp. 534-536 ◽  
Author(s):  
Alina T. Midro ◽  
Niels Tommerup ◽  
Jan Borys ◽  
Barbara Panasiuk ◽  
Bożena Kosztyła-Hojna ◽  
...  
Keyword(s):  
Neurodevelopmental Disorder ◽  
Distal Limb ◽  
Limb Anomalies ◽  
Silver Russell Syndrome
Sign in / Sign up

Export Citation Format

Share Document