-
Muenke syndrome, also
known as FGFR3-related craniosynostosis, is a
human specific condition characterized by the
premature closure of
certain bones of...
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substitution in a Lsy650Glu
which is
located in the
tyrosine kinase area of FGFR3.
Muenke syndrome, a
disorder characterized by craniosynostosis, is
caused by protein...
-
Department of
Health &
Human Services. Raam, Manu S; Solomon,
Benjamin D;
Muenke,
Maximilian (June 2011). "Holoprosencephaly: A
Guide to
Diagnosis and Clinical...
- syndrome:
craniosynostosis with
midfacial hypoplasia and foot anomalies.
Muenke syndrome:
coronal craniosynostosis (plagiocephaly and brachycephaly), short...
-
syndrome Micromelic bone
dysplasia with
cloverleaf skull Mosaic trisomy 5
Muenke syndrome Osteoglophonic dysplasia Pfeiffer syndrome Thanatophoric dysplasia...
-
Judith E.; Cunniff, Christopher; Hoyme, H. Eugene; McGaughran, Julie;
Muenke, Max; Neri,
Giovanni (January 2009). "Elements of morphology:
standard terminology...
- with
brain and
digit anomalies Mitochondrial DNA
depletion syndrome 13
Muenke syndrome Noonan syndrome 13
Osteogenesis imperfecta, type 20 Ritscher-Schinzel...
-
Receptor 3 Disorders: The
Achondroplasia Family of
Skeletal Dysplasias,
Muenke Craniosynostosis, and
Crouzon Syndrome with
Acanthosis Nigricans". Endocrine...
- Gaudenz;
Fernando Vargas;
Stephen W. Scherer; Lap-Chee Tsui &
Maximilian Muenke (1997). "Mutations in the C-terminal
domain of
Sonic Hedgehog cause holoprosencephaly"...
- doi:10.1007/s00439-009-0694-x. PMID 19506906. S2CID 166017. Arcos-Burgos M,
Muenke M (November 2010). "Toward a
better understanding of ADHD: LPHN3 gene variants...
