000 01676 a2200469 4500
005 20250517075248.0
264 0 _c20161220
008 201612s 0 0 eng d
022 _a1873-3492
024 7 _a10.1016/j.cca.2016.01.021
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aWu, Bo
245 0 0 _aCraniometaphyseal dysplasia with obvious biochemical abnormality and rickets-like features.
_h[electronic resource]
260 _bClinica chimica acta; international journal of clinical chemistry
_cMay 2016
300 _a122-127 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAlkaline Phosphatase
_xmetabolism
650 0 4 _aBone Diseases, Developmental
_xcomplications
650 0 4 _aCraniofacial Abnormalities
_xcomplications
650 0 4 _aExons
_xgenetics
650 0 4 _aFemale
650 0 4 _aHeterozygote
650 0 4 _aHumans
650 0 4 _aHyperostosis
_xcomplications
650 0 4 _aHypertelorism
_xcomplications
650 0 4 _aHypocalcemia
_xcomplications
650 0 4 _aHypophosphatemia
_xcomplications
650 0 4 _aInfant
650 0 4 _aMale
650 0 4 _aMutation
650 0 4 _aParathyroid Hormone
_xmetabolism
650 0 4 _aPedigree
650 0 4 _aPhosphate Transport Proteins
_xgenetics
650 0 4 _aRickets
_xcomplications
700 1 _aJiang, Yan
700 1 _aWang, Ou
700 1 _aLi, Mei
700 1 _aXing, Xiao-Ping
700 1 _aXia, Wei-Bo
773 0 _tClinica chimica acta; international journal of clinical chemistry
_gvol. 456
_gp. 122-127
856 4 0 _uhttps://doi.org/10.1016/j.cca.2016.01.021
_zAvailable from publisher's website
999 _c25678796
_d25678796