- Neu–
Laxova syndrome (NLS, also
known as Neu syndrome; Neu-Povysilová syndrome; or 3-phosphoglycerate
dehydrogenase deficiency,
neonate form) is a rare...
-
Renata Laxova (July 15, 1931 –
November 30, 2020) was a
Czech American pediatric geneticist and a
professor of
genetics at the
Departments of Pediatrics...
- Scalp–ear–nipple (SEN)
syndrome (also
known as "Finlay–Marks syndrome") is a
condition ****ociated with
aplasia cutis congenita. The key
affected features...
-
Progeroid syndromes (PS) are a
group of rare
genetic disorders that
mimic physiological aging,
making affected individuals appear to be
older than they...
- pseudo-hydrocephalic
progeroid syndrome Nestor-Guillermo
progeria syndrome Neu-
Laxova syndrome 1, 2
Ogden syndrome Osteogenesis imperfecta types 7, 8 Pallister-Killian...
-
microdeletion syndrome)
Microgastria Myhre syndrome Nager acrofacial dysostosis Neu–
Laxova syndrome Patau syndrome Pfeiffer syndrome Poland syndrome Radial aplasia...
-
ichthyosis (except for
syndromes that
include ichthyosis, for example, Neu–
Laxova syndrome), a
group of
genetic disorders characterised by
scaly skin. Harlequin-type...
-
Online Mendelian Inheritance in Man (OMIM). 311510.
Retrieved 2022-06-11.
Laxova R,
Brown ES,
Hogan K,
Hecox K,
Opitz JM (August 1985). "An X-linked recessive...
-
syndrome Nephrotic syndrome, type 11 Nestor-Guillermo
progeria syndrome Neu-
Laxova syndrome 1 and 2 Neuropathy,
congenital hypomyelinating, 3
Noonan syndrome...
- ABHD5
Ichthyosis prematurity syndrome 608649
Autosomal recessive SLC27A4 Neu–
Laxova syndrome 256520 616038
autosomal recessive PHGDH , PSAT1 and PSPH...
